Linked Data
dbSNP Id:
rs147223381
ExAC:
9:137300075 C / T
gnomAD v2:
9-137300075-C-T
gnomAD v3:
9-134408229-C-T
gnomAD v4:
9-134408229-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134408229C>T , CM000671.2:g.134408229C>T | GRCh38 |
| NC_000009.11:g.137300075C>T , CM000671.1:g.137300075C>T | GRCh37 |
| NC_000009.10:g.136439896C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481739.2:c.360C>T MANE Select | ENSP00000419692.1:p.Pro120= | |
| ENST00000672570.1:c.279C>T | ENSP00000500402.1:p.Pro93= | |
| ENST00000356384.4:n.770C>T | ||
| ENST00000481739.1:c.360C>T | ENSP00000419692.1:p.Pro120= | |
| NM_001291920.1:c.279C>T | NP_001278849.1:p.Pro93= | |
| NM_001291921.1:c.69C>T | NP_001278850.1:p.Pro23= | |
| NM_002957.5:c.360C>T | NP_002948.1:p.Pro120= | |
| NM_002957.6:c.360C>T MANE Select | NP_002948.1:p.Pro120= | |
| NM_001291921.2:c.69C>T | NP_001278850.1:p.Pro23= | |
| NM_001291920.2:c.279C>T | NP_001278849.1:p.Pro93= |