UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
218672
ClinVar RCV Id:
RCV000203032
dbSNP Id:
rs200023000
ExAC:
11:8751902 C / T
gnomAD v2:
11-8751902-C-T
gnomAD v3:
11-8730355-C-T
gnomAD v4:
11-8730355-C-T
COSMIC:
COSM545471
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.8730355C>T , CM000673.2:g.8730355C>T | GRCh38 |
| NC_000011.9:g.8751902C>T , CM000673.1:g.8751902C>T | GRCh37 |
| NC_000011.8:g.8708478C>T | NCBI36 |
| NG_029450.1:g.185597G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000313726.11:c.935G>A MANE Select | ENSP00000319678.6:p.Arg312Gln | |
| ENST00000313726.10:c.935G>A | ENSP00000319678.6:p.Arg312Gln | |
| ENST00000357665.5:c.935G>A | ENSP00000350294.1:p.Arg312Gln | |
| ENST00000526057.5:c.-244-4146G>A | ENSP00000437006.1:n.-244-4146G>A | |
| ENST00000526126.5:c.81-4146G>A | ENSP00000436760.1:n.81-4146G>A | |
| ENST00000526221.5:n.492G>A | ||
| ENST00000526757.5:c.81-4146G>A | ENSP00000435097.1:n.81-4146G>A | |
| ENST00000527510.5:c.81-4146G>A | ENSP00000434701.1:n.81-4146G>A | |
| ENST00000528196.5:c.81-4146G>A | ENSP00000431564.1:n.81-4146G>A | |
| ENST00000528527.5:c.-244-4146G>A | ENSP00000431580.1:n.-244-4146G>A | |
| ENST00000530438.5:c.81-4146G>A | ENSP00000436802.1:n.81-4146G>A | |
| ENST00000530580.5:c.81-4146G>A | ENSP00000432521.1:n.81-4146G>A | |
| ENST00000531093.5:c.81-4146G>A | ENSP00000436506.1:n.81-4146G>A | |
| ENST00000532651.5:n.347-4146G>A | ||
| ENST00000532734.5:c.171-4146G>A | ENSP00000433793.1:n.171-4146G>A | |
| ENST00000533225.5:c.81-4146G>A | ENSP00000435292.1:n.81-4146G>A | |
| ENST00000533425.5:n.275-4146G>A | ||
| ENST00000534127.5:c.935G>A | ENSP00000433528.1:p.Arg312Gln | |
| ENST00000626808.2:c.171-4146G>A | ENSP00000486899.1:n.171-4146G>A | |
| NM_005418.3:c.935G>A | NP_005409.3:p.Arg312Gln | |
| NM_139157.2:c.81-4146G>A | NP_631896.1:n.81-4146G>A | |
| NM_213618.1:c.935G>A | NP_998783.1:p.Arg312Gln | |
| XM_005253077.1:c.1025G>A | XP_005253134.1:p.Arg342Gln | |
| XM_005253083.2:c.81-4146G>A | XP_005253140.1:n.81-4146G>A | |
| XM_011520309.1:c.1025G>A | XP_011518611.1:p.Arg342Gln | |
| XM_011520310.1:c.995G>A | XP_011518612.1:p.Arg332Gln | |
| XM_011520311.1:c.935G>A | XP_011518613.1:p.Arg312Gln | |
| XM_011520312.1:c.935G>A | XP_011518614.1:p.Arg312Gln | |
| XM_011520313.1:c.935G>A | XP_011518615.1:p.Arg312Gln | |
| XM_011520314.1:c.935G>A | XP_011518616.1:p.Arg312Gln | |
| XM_011520315.1:c.935G>A | XP_011518617.1:p.Arg312Gln | |
| XM_011520316.1:c.935G>A | XP_011518618.1:p.Arg312Gln | |
| XM_011520317.1:c.935G>A | XP_011518619.1:p.Arg312Gln | |
| XM_011520318.1:c.935G>A | XP_011518620.1:p.Arg312Gln | |
| XM_011520319.1:c.395G>A | XP_011518621.1:p.Arg132Gln | |
| XM_011520320.1:c.1025G>A | XP_011518622.1:p.Arg342Gln | |
| XM_011520321.1:c.1025G>A | XP_011518623.1:p.Arg342Gln | |
| XM_011520322.1:c.1025G>A | XP_011518624.1:p.Arg342Gln | |
| XM_011520323.1:c.81-4146G>A | XP_011518625.1:n.81-4146G>A | |
| XM_011520324.1:c.81-4146G>A | XP_011518626.1:n.81-4146G>A | |
| XM_011520325.1:c.81-4146G>A | XP_011518627.1:n.81-4146G>A | |
| XM_011520326.1:c.81-4146G>A | XP_011518628.1:n.81-4146G>A | |
| XM_011520327.1:c.81-4146G>A | XP_011518629.1:n.81-4146G>A | |
| XM_011520328.1:c.81-4146G>A | XP_011518630.1:n.81-4146G>A | |
| XM_011520329.1:c.81-4146G>A | XP_011518631.1:n.81-4146G>A | |
| XR_930887.1:n.1036G>A | ||
| XR_930888.1:n.1036G>A | ||
| XR_930889.1:n.1036G>A | ||
| XM_011520321.2:c.1025G>A | XP_011518623.1:p.Arg342Gln | |
| XM_011520324.2:c.171-4146G>A | XP_011518626.2:n.171-4146G>A | |
| XM_017018186.1:c.395G>A | XP_016873675.1:p.Arg132Gln | |
| XR_001747941.1:n.1036G>A | ||
| XR_001747942.1:n.1036G>A | ||
| XR_001747943.1:n.1036G>A | ||
| XR_002957159.1:n.1036G>A | ||
| XR_002957160.1:n.1448G>A | ||
| XR_002957161.1:n.1036G>A | ||
| XR_002957162.1:n.1395G>A | ||
| XR_002957163.1:n.1163G>A | ||
| XR_002957164.1:n.1281G>A | ||
| XR_002957165.1:n.1115G>A | ||
| XR_002957166.1:n.1173G>A | ||
| XR_002957167.1:n.1269G>A | ||
| XR_002957168.1:n.1154G>A | ||
| XR_002957169.1:n.1131G>A | ||
| XR_002957170.1:n.1199G>A | ||
| XR_002957171.1:n.1501G>A | ||
| XR_002957172.1:n.1129G>A | ||
| XR_002957173.1:n.1807G>A | ||
| XR_002957174.1:n.1140G>A | ||
| XR_002957175.1:n.1163G>A | ||
| XR_002957176.1:n.1290G>A | ||
| XR_002957177.1:n.1086G>A | ||
| XR_002957178.1:n.988G>A | ||
| XR_002957179.1:n.1086G>A | ||
| XR_002957180.1:n.265-4146G>A | ||
| XR_002957181.1:n.265-4146G>A | ||
| XR_002957182.1:n.541-4146G>A | ||
| XR_002957183.1:n.337-4146G>A | ||
| XR_002957184.1:n.201-4146G>A | ||
| XR_002957185.1:n.262-4146G>A | ||
| XR_002957186.1:n.230-4146G>A | ||
| XR_002957187.1:n.337-4146G>A | ||
| XR_002957188.1:n.371-4146G>A | ||
| XR_930887.2:n.1036G>A | ||
| NM_213618.2:c.935G>A MANE Select | NP_998783.1:p.Arg312Gln | |
| NM_001376495.1:c.935G>A | NP_001363424.1:p.Arg312Gln | |
| NM_001376496.1:c.935G>A | NP_001363425.1:p.Arg312Gln | |
| NM_001376497.1:c.935G>A | NP_001363426.1:p.Arg312Gln | |
| NM_001376498.1:c.935G>A | NP_001363427.1:p.Arg312Gln | |
| NM_001376499.1:c.395G>A | NP_001363428.1:p.Arg132Gln | |
| NM_001376500.1:c.254G>A | NP_001363429.1:p.Arg85Gln | |
| NM_001376501.1:c.81-4146G>A | NP_001363430.1:n.81-4146G>A | |
| NM_001376502.1:c.81-4146G>A | NP_001363431.1:n.81-4146G>A | |
| NM_001376503.1:c.81-4146G>A | NP_001363432.1:n.81-4146G>A | |
| NM_001376504.1:c.81-4146G>A | NP_001363433.1:n.81-4146G>A | |
| NM_001376505.1:c.-107-12463G>A | NP_001363434.1:n.-107-12463G>A | |
| NM_001376506.1:c.-244-4146G>A | NP_001363435.1:n.-244-4146G>A | |
| NM_005418.4:c.935G>A | NP_005409.3:p.Arg312Gln | |
| NM_139157.3:c.81-4146G>A | NP_631896.1:n.81-4146G>A | |
| NR_164814.1:n.1232G>A | ||
| NR_164815.1:n.264-4146G>A | ||
| NR_164816.1:n.264-4146G>A | ||
| NR_164817.1:n.264-4146G>A | ||
| NR_164818.1:n.1118G>A | ||
| NR_164819.1:n.1118G>A | ||
| NR_164820.1:n.1118G>A | ||
| NR_164821.1:n.1118G>A | ||
| NR_164822.1:n.1220G>A |