Linked Data
dbSNP Id:
rs1006315906
gnomAD v2:
9-137301736-G-T
gnomAD v3:
9-134409890-G-T
gnomAD v4:
9-134409890-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134409890G>T , CM000671.2:g.134409890G>T | GRCh38 |
| NC_000009.11:g.137301736G>T , CM000671.1:g.137301736G>T | GRCh37 |
| NC_000009.10:g.136441557G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481739.2:c.610+771G>T MANE Select | ENSP00000419692.1:n.610+771G>T | |
| ENST00000672570.1:c.529+771G>T | ENSP00000500402.1:n.529+771G>T | |
| ENST00000356384.4:n.1020+771G>T | ||
| ENST00000481739.1:c.610+771G>T | ENSP00000419692.1:n.610+771G>T | |
| NM_001291920.1:c.529+771G>T | NP_001278849.1:n.529+771G>T | |
| NM_001291921.1:c.319+771G>T | NP_001278850.1:n.319+771G>T | |
| NM_002957.5:c.610+771G>T | NP_002948.1:n.610+771G>T | |
| NM_002957.6:c.610+771G>T MANE Select | NP_002948.1:n.610+771G>T | |
| NM_001291921.2:c.319+771G>T | NP_001278850.1:n.319+771G>T | |
| NM_001291920.2:c.529+771G>T | NP_001278849.1:n.529+771G>T |