Linked Data
ClinVar Variation Id:
470649
ClinVar RCV Id:
RCV000546145
dbSNP Id:
rs756855616
ExAC:
15:73621934 G / T
gnomAD v2:
15-73621934-G-T
gnomAD v3:
15-73329593-G-T
gnomAD v4:
15-73329593-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73329593G>T , CM000677.2:g.73329593G>T | GRCh38 |
| NC_000015.9:g.73621934G>T , CM000677.1:g.73621934G>T | GRCh37 |
| NC_000015.8:g.71408987G>T | NCBI36 |
| NG_009063.1:g.44672C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261917.4:c.1570C>A MANE Select | ENSP00000261917.3:p.Arg524= | |
| ENST00000261917.3:c.1570C>A | ENSP00000261917.3:p.Arg524= | |
| NM_005477.2:c.1570C>A | NP_005468.1:p.Arg524= | |
| XM_011521148.1:c.352C>A | XP_011519450.1:p.Arg118= | |
| XM_011521148.2:c.352C>A | XP_011519450.1:p.Arg118= | |
| NM_005477.3:c.1570C>A MANE Select | NP_005468.1:p.Arg524= |