Linked Data
ClinVar Variation Id:
538096
ClinVar RCV Id:
RCV002422358
dbSNP Id:
rs371293769
ExAC:
15:73617315 G / A
gnomAD v2:
15-73617315-G-A
gnomAD v3:
15-73324974-G-A
gnomAD v4:
15-73324974-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73324974G>A , CM000677.2:g.73324974G>A | GRCh38 |
| NC_000015.9:g.73617315G>A , CM000677.1:g.73617315G>A | GRCh37 |
| NC_000015.8:g.71404368G>A | NCBI36 |
| NG_009063.1:g.49291C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261917.4:c.1959C>T MANE Select | ENSP00000261917.3:p.Ala653= | |
| ENST00000261917.3:c.1959C>T | ENSP00000261917.3:p.Ala653= | |
| NM_005477.2:c.1959C>T | NP_005468.1:p.Ala653= | |
| XM_011521148.1:c.741C>T | XP_011519450.1:p.Ala247= | |
| XM_011521148.2:c.741C>T | XP_011519450.1:p.Ala247= | |
| NM_005477.3:c.1959C>T MANE Select | NP_005468.1:p.Ala653= |