Linked Data
dbSNP Id:
rs3850641
gnomAD v2:
1-173175832-A-G
gnomAD v3:
1-173206693-A-G
gnomAD v4:
1-173206693-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173206693A>G , CM000663.2:g.173206693A>G | GRCh38 |
| NC_000001.10:g.173175832A>G , CM000663.1:g.173175832A>G | GRCh37 |
| NC_000001.9:g.171442455A>G | NCBI36 |
| NG_011477.1:g.5640T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000281834.4:c.153+331T>C MANE Select | ENSP00000281834.3:n.153+331T>C | |
| ENST00000281834.3:c.153+331T>C | ENSP00000281834.3:n.153+331T>C | |
| NM_003326.4:c.153+331T>C | NP_003317.1:n.153+331T>C | |
| XM_011509964.1:c.225+331T>C | XP_011508266.1:n.225+331T>C | |
| XM_011509964.2:c.441+331T>C | XP_011508266.2:n.441+331T>C | |
| XM_017002228.1:c.-958T>C | XP_016857717.1:n.-958T>C | |
| XM_017002229.1:c.186+331T>C | XP_016857718.1:n.186+331T>C | |
| XM_017002230.1:c.180+331T>C | XP_016857719.1:n.180+331T>C | |
| NM_003326.5:c.153+331T>C MANE Select | NP_003317.1:n.153+331T>C |