Linked Data
dbSNP Id:
rs193289374
gnomAD v2:
21-35987353-G-A
gnomAD v3:
21-34615054-G-A
gnomAD v4:
21-34615054-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34615054G>A , CM000683.2:g.34615054G>A | GRCh38 |
| NC_000021.8:g.35987353G>A , CM000683.1:g.35987353G>A | GRCh37 |
| NC_000021.7:g.34909223G>A | NCBI36 |
| NG_007071.1:g.5030C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000313806.9:c.-43C>T MANE Select | ENSP00000320768.4:n.-43C>T | |
| ENST00000313806.8:c.-43C>T | ENSP00000320768.4:n.-43C>T | |
| ENST00000463276.1:n.30C>T | ||
| NM_004414.6:c.-43C>T | NP_004405.3:n.-43C>T | |
| XM_005260929.1:c.-43C>T | XP_005260986.1:n.-43C>T | |
| XM_005260929.2:c.-43C>T | XP_005260986.1:n.-43C>T | |
| NM_004414.7:c.-43C>T MANE Select | NP_004405.3:n.-43C>T |