Linked Data
dbSNP Id:
rs1435640354
gnomAD v2:
15-73614861-C-T
gnomAD v3:
15-73322520-C-T
gnomAD v4:
15-73322520-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322520C>T , CM000677.2:g.73322520C>T | GRCh38 |
| NC_000015.9:g.73614861C>T , CM000677.1:g.73614861C>T | GRCh37 |
| NC_000015.8:g.71401914C>T | NCBI36 |
| NG_009063.1:g.51745G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.3573G>A MANE Select | ENSP00000261917.3:p.Arg1191= | |
| ENST00000261917.3:c.3573G>A | ENSP00000261917.3:p.Arg1191= | |
| NM_005477.2:c.3573G>A | NP_005468.1:p.Arg1191= | |
| XM_011521148.1:c.2355G>A | XP_011519450.1:p.Arg785= | |
| XM_011521148.2:c.2355G>A | XP_011519450.1:p.Arg785= | |
| NM_005477.3:c.3573G>A MANE Select | NP_005468.1:p.Arg1191= |