Linked Data
dbSNP Id:
rs1392074378
gnomAD v2:
5-136974835-C-A
gnomAD v3:
5-137639146-C-A
gnomAD v4:
5-137639146-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.137639146C>A , CM000667.2:g.137639146C>A | GRCh38 |
| NC_000005.9:g.136974835C>A , CM000667.1:g.136974835C>A | GRCh37 |
| NC_000005.8:g.137002734C>A | NCBI36 |
| NG_032569.1:g.101945G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309755.9:c.1026G>T MANE Select | ENSP00000312397.4:p.Val342= | |
| ENST00000309755.8:c.1026G>T | ENSP00000312397.4:p.Val342= | |
| ENST00000502381.1:n.613G>T | ||
| ENST00000504208.5:c.*335-10709G>T | ENSP00000423585.1:n.*335-10709G>T | |
| ENST00000505853.1:c.906G>T | ENSP00000426173.1:p.Val302= | |
| ENST00000506491.5:c.780G>T | ENSP00000424828.1:p.Val260= | |
| ENST00000506873.5:n.651G>T | ||
| ENST00000508657.5:c.930G>T | ENSP00000422099.1:p.Val310= | |
| NM_001257194.1:c.930G>T | NP_001244123.1:p.Val310= | |
| NM_001257195.1:c.780G>T | NP_001244124.1:p.Val260= | |
| NM_017415.2:c.1026G>T | NP_059111.2:p.Val342= | |
| NM_017415.3:c.1026G>T MANE Select | NP_059111.2:p.Val342= | |
| NM_001257195.2:c.780G>T | NP_001244124.1:p.Val260= |