Linked Data
ClinVar Variation Id:
8371
ClinVar RCV Id:
RCV000008876
RCV000008877
RCV000054424
RCV000353571
RCV000428033
RCV000767010
RCV001255226
RCV001255227
RCV001522988
dbSNP Id:
rs121909352
ExAC:
8:97157413 G / T
gnomAD v2:
8-97157413-G-T
gnomAD v3:
8-96145185-G-T
gnomAD v4:
8-96145185-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.96145185G>T , CM000670.2:g.96145185G>T | GRCh38 |
| NC_000008.10:g.97157413G>T , CM000670.1:g.97157413G>T | GRCh37 |
| NC_000008.9:g.97226589G>T | NCBI36 |
| NG_008981.1:g.20608C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000287020.7:c.746C>A MANE Select | ENSP00000287020.4:p.Ala249Glu | |
| ENST00000287020.6:c.746C>A | ENSP00000287020.4:p.Ala249Glu | |
| ENST00000620978.1:c.707-23C>A | ENSP00000480170.1:n.707-23C>A | |
| ENST00000621429.1:c.746C>A | ENSP00000483711.1:p.Ala249Glu | |
| NM_001001557.2:c.746C>A | NP_001001557.1:p.Ala249Glu | |
| XM_011517030.1:c.347C>A | XP_011515332.1:p.Ala116Glu | |
| NM_001001557.3:c.746C>A | NP_001001557.1:p.Ala249Glu | |
| NM_001001557.4:c.746C>A MANE Select | NP_001001557.1:p.Ala249Glu |