Linked Data
ClinVar Variation Id:
350981
dbSNP Id:
rs189064290
gnomAD v2:
5-136957646-G-A
gnomAD v3:
5-137621957-G-A
gnomAD v4:
5-137621957-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.137621957G>A , CM000667.2:g.137621957G>A | GRCh38 |
| NC_000005.9:g.136957646G>A , CM000667.1:g.136957646G>A | GRCh37 |
| NC_000005.8:g.136985545G>A | NCBI36 |
| NG_032569.1:g.119134C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309755.9:c.*141C>T MANE Select | ENSP00000312397.4:n.*141C>T | |
| ENST00000309755.8:c.*141C>T | ENSP00000312397.4:n.*141C>T | |
| ENST00000447439.6:n.1961C>T | ||
| ENST00000504208.5:c.*789C>T | ENSP00000423585.1:n.*789C>T | |
| ENST00000506491.5:c.*141C>T | ENSP00000424828.1:n.*141C>T | |
| ENST00000506873.5:n.1428C>T | ||
| ENST00000508657.5:c.*141C>T | ENSP00000422099.1:n.*141C>T | |
| ENST00000509694.1:n.623-4093C>T | ||
| NM_001257194.1:c.*141C>T | NP_001244123.1:n.*141C>T | |
| NM_001257195.1:c.*141C>T | NP_001244124.1:n.*141C>T | |
| NM_017415.2:c.*141C>T | NP_059111.2:n.*141C>T | |
| NM_017415.3:c.*141C>T MANE Select | NP_059111.2:n.*141C>T | |
| NM_001257195.2:c.*141C>T | NP_001244124.1:n.*141C>T |