Linked Data
ClinVar Variation Id:
9008
ClinVar RCV Id:
RCV000009573
RCV000009572
RCV000023017
RCV000037968
RCV000023018
RCV000023019
RCV000030339
RCV000987632
RCV000619696
RCV003311655
dbSNP Id:
rs28936670
ExAC:
5:172662014 G / A
gnomAD v2:
5-172662014-G-A
gnomAD v3:
5-173235011-G-A
gnomAD v4:
5-173235011-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.173235011G>A , CM000667.2:g.173235011G>A | GRCh38 |
| NC_000005.9:g.172662014G>A , CM000667.1:g.172662014G>A | GRCh37 |
| NC_000005.8:g.172594620G>A | NCBI36 |
| NG_013340.1:g.5302C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329198.5:c.73C>T MANE Select | ENSP00000327758.4:p.Arg25Cys | |
| ENST00000329198.4:c.73C>T | ENSP00000327758.4:p.Arg25Cys | |
| ENST00000424406.2:c.73C>T | ENSP00000395378.2:p.Arg25Cys | |
| ENST00000517440.1:c.73C>T | ENSP00000429905.1:p.Arg25Cys | |
| ENST00000521848.1:c.73C>T | ENSP00000427906.1:p.Arg25Cys | |
| NM_001166175.1:c.73C>T | NP_001159647.1:p.Arg25Cys | |
| NM_001166176.1:c.73C>T | NP_001159648.1:p.Arg25Cys | |
| NM_004387.3:c.73C>T | NP_004378.1:p.Arg25Cys | |
| XM_017009071.2:c.73C>T | XP_016864560.1:p.Arg25Cys | |
| NM_004387.4:c.73C>T MANE Select | NP_004378.1:p.Arg25Cys | |
| NM_001166175.2:c.73C>T | NP_001159647.1:p.Arg25Cys | |
| NM_001166176.2:c.73C>T | NP_001159648.1:p.Arg25Cys |