Linked Data
dbSNP Id:
rs768260912
ExAC:
X:63412038 C / A
gnomAD v2:
X-63412038-C-A
gnomAD v4:
X-64192158-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.64192158C>A , CM000685.2:g.64192158C>A | GRCh38 |
| NC_000023.10:g.63412038C>A , CM000685.1:g.63412038C>A | GRCh37 |
| NC_000023.9:g.63328763C>A | NCBI36 |
| NG_021345.1:g.18587G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374869.8:c.1129G>T MANE Select | ENSP00000364003.4:p.Asp377Tyr | |
| ENST00000330258.3:c.1129G>T | ENSP00000329117.3:p.Asp377Tyr | |
| ENST00000374869.7:c.1129G>T | ENSP00000364003.3:p.Asp377Tyr | |
| NM_152424.3:c.1129G>T | NP_689637.3:p.Asp377Tyr | |
| XM_011530858.1:c.1129G>T | XP_011529160.1:p.Asp377Tyr | |
| NM_152424.4:c.1129G>T MANE Select | NP_689637.3:p.Asp377Tyr |