Linked Data
ClinVar Variation Id:
975258
ClinVar RCV Id:
RCV001251796
dbSNP Id:
rs1169193672
gnomAD v2:
8-41790711-T-G
gnomAD v4:
8-41933193-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.41933193T>G , CM000670.2:g.41933193T>G | GRCh38 |
| NC_000008.10:g.41790711T>G , CM000670.1:g.41790711T>G | GRCh37 |
| NC_000008.9:g.41909868T>G | NCBI36 |
| NG_042093.1:g.123834A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265713.8:c.5027A>C MANE Select | ENSP00000265713.2:p.Gln1676Pro | |
| ENST00000396930.4:c.5027A>C | ENSP00000380136.3:p.Gln1676Pro | |
| ENST00000406337.6:c.5033A>C | ENSP00000385888.2:p.Gln1678Pro | |
| ENST00000648335.1:c.5027A>C | ENSP00000497086.1:p.Gln1676Pro | |
| ENST00000649817.1:c.3708A>C | ||
| ENST00000265713.6:c.5027A>C | ENSP00000265713.2:p.Gln1676Pro | |
| ENST00000396930.3:c.5027A>C | ENSP00000380136.3:p.Gln1676Pro | |
| ENST00000406337.5:c.5027A>C | ENSP00000385888.1:p.Gln1676Pro | |
| NM_001099412.1:c.5027A>C | NP_001092882.1:p.Gln1676Pro | |
| NM_001099413.1:c.5027A>C | NP_001092883.1:p.Gln1676Pro | |
| NM_006766.3:c.5027A>C | NP_006757.2:p.Gln1676Pro | |
| NM_006766.4:c.5027A>C | NP_006757.2:p.Gln1676Pro | |
| XM_011544656.1:c.5159A>C | XP_011542958.1:p.Gln1720Pro | |
| XM_011544657.1:c.5159A>C | XP_011542959.1:p.Gln1720Pro | |
| XM_011544658.1:c.5159A>C | XP_011542960.1:p.Gln1720Pro | |
| XM_011544659.1:c.5138A>C | XP_011542961.1:p.Gln1713Pro | |
| XM_011544660.1:c.5045A>C | XP_011542962.1:p.Gln1682Pro | |
| XM_011544656.2:c.5159A>C | XP_011542958.1:p.Gln1720Pro | |
| XM_011544657.3:c.5159A>C | XP_011542959.1:p.Gln1720Pro | |
| XM_011544658.3:c.5159A>C | XP_011542960.1:p.Gln1720Pro | |
| XM_011544659.2:c.5138A>C | XP_011542961.1:p.Gln1713Pro | |
| XM_017013863.1:c.5027A>C | XP_016869352.1:p.Gln1676Pro | |
| XM_017013864.2:c.5027A>C | XP_016869353.1:p.Gln1676Pro | |
| XM_024447285.1:c.3599A>C | XP_024303053.1:p.Gln1200Pro | |
| NM_006766.5:c.5027A>C MANE Select | NP_006757.2:p.Gln1676Pro |