Linked Data
dbSNP Id:
rs1234680572
gnomAD v2:
5-136975358-G-A
gnomAD v3:
5-137639669-G-A
gnomAD v4:
5-137639669-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.137639669G>A , CM000667.2:g.137639669G>A | GRCh38 |
| NC_000005.9:g.136975358G>A , CM000667.1:g.136975358G>A | GRCh37 |
| NC_000005.8:g.137003257G>A | NCBI36 |
| NG_032569.1:g.101422C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309755.9:c.1021+191C>T MANE Select | ENSP00000312397.4:n.1021+191C>T | |
| ENST00000309755.8:c.1021+191C>T | ENSP00000312397.4:n.1021+191C>T | |
| ENST00000502381.1:n.608+191C>T | ||
| ENST00000504208.5:c.*335-11232C>T | ENSP00000423585.1:n.*335-11232C>T | |
| ENST00000505853.1:c.901+191C>T | ENSP00000426173.1:n.901+191C>T | |
| ENST00000506491.5:c.775+191C>T | ENSP00000424828.1:n.775+191C>T | |
| ENST00000506873.5:n.646+191C>T | ||
| ENST00000508657.5:c.925+191C>T | ENSP00000422099.1:n.925+191C>T | |
| NM_001257194.1:c.925+191C>T | NP_001244123.1:n.925+191C>T | |
| NM_001257195.1:c.775+191C>T | NP_001244124.1:n.775+191C>T | |
| NM_017415.2:c.1021+191C>T | NP_059111.2:n.1021+191C>T | |
| NM_017415.3:c.1021+191C>T MANE Select | NP_059111.2:n.1021+191C>T | |
| NM_001257195.2:c.775+191C>T | NP_001244124.1:n.775+191C>T |