Linked Data
ClinVar Variation Id:
1472734
ClinVar RCV Id:
RCV001977208
dbSNP Id:
rs766896361
ExAC:
17:61914960 C / T
gnomAD v2:
17-61914960-C-T
gnomAD v3:
17-63837600-C-T
gnomAD v4:
17-63837600-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63837600C>T , CM000679.2:g.63837600C>T | GRCh38 |
| NC_000017.10:g.61914960C>T , CM000679.1:g.61914960C>T | GRCh37 |
| NC_000017.9:g.59268692C>T | NCBI36 |
| NG_053004.1:g.10392G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697953.1:n.130G>A | ||
| ENST00000698016.1:c.101G>A | ENSP00000513502.1:p.Arg34Gln | |
| ENST00000698022.1:c.59G>A | ENSP00000513504.1:p.Arg20Gln | |
| ENST00000698027.1:c.101G>A | ENSP00000513505.1:p.Arg34Gln | |
| ENST00000448276.7:c.242G>A MANE Select | ENSP00000392617.2:p.Arg81Gln | |
| ENST00000225742.13:c.17G>A | ENSP00000225742.9:p.Arg6Gln | |
| ENST00000323347.14:c.98G>A | ENSP00000318451.10:p.Arg33Gln | |
| ENST00000448276.6:c.242G>A | ENSP00000392617.2:p.Arg81Gln | |
| ENST00000577686.1:n.53-363G>A | ||
| ENST00000580054.1:c.26G>A | ENSP00000463793.1:p.Arg9Gln | |
| ENST00000584400.5:c.217-363G>A | ENSP00000464503.1:n.217-363G>A | |
| ENST00000613943.4:c.131G>A | ENSP00000483605.1:p.Arg44Gln | |
| NM_001098426.1:c.242G>A | NP_001091896.1:p.Arg81Gln | |
| XM_005257604.2:c.17G>A | XP_005257661.2:p.Arg6Gln | |
| NM_001330439.1:c.17G>A | NP_001317368.1:p.Arg6Gln | |
| NM_001330440.1:c.98G>A | NP_001317369.1:p.Arg33Gln | |
| NM_001098426.2:c.242G>A MANE Select | NP_001091896.1:p.Arg81Gln | |
| NM_001330440.2:c.98G>A | NP_001317369.1:p.Arg33Gln |