Linked Data
dbSNP Id:
rs1188156591
gnomAD v2:
3-81584545-G-A
gnomAD v3:
3-81535394-G-A
gnomAD v4:
3-81535394-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81535394G>A , CM000665.2:g.81535394G>A | GRCh38 |
| NC_000003.11:g.81584545G>A , CM000665.1:g.81584545G>A | GRCh37 |
| NC_000003.10:g.81667235G>A | NCBI36 |
| NG_011810.1:g.231407C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.1804-69C>T MANE Select | ENSP00000410833.2:n.1804-69C>T | |
| ENST00000429644.6:c.1804-69C>T | ENSP00000410833.2:n.1804-69C>T | |
| ENST00000484687.1:n.205-69C>T | ||
| ENST00000489715.1:c.1681-69C>T | ENSP00000419638.1:n.1681-69C>T | |
| NM_000158.3:c.1804-69C>T | NP_000149.3:n.1804-69C>T | |
| NM_000158.4:c.1804-69C>T MANE Select | NP_000149.4:n.1804-69C>T |