Linked Data
dbSNP Id:
rs771342162
ExAC:
2:215593391 G / A
gnomAD v2:
2-215593391-G-A
gnomAD v4:
2-214728667-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214728667G>A , CM000664.2:g.214728667G>A | GRCh38 |
| NC_000002.11:g.215593391G>A , CM000664.1:g.215593391G>A | GRCh37 |
| NC_000002.10:g.215301636G>A | NCBI36 |
| NG_012047.2:g.86038C>T | |
| NG_012047.3:g.86045C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260947.9:c.*9C>T MANE Select | ENSP00000260947.4:n.*9C>T | |
| ENST00000613374.5:c.*9C>T | ENSP00000484464.1:n.*9C>T | |
| ENST00000613706.5:c.*9C>T | ENSP00000484976.2:n.*9C>T | |
| ENST00000617164.5:c.*9C>T | ENSP00000480470.1:n.*9C>T | |
| ENST00000619009.5:c.*9C>T | ENSP00000482293.1:n.*9C>T | |
| ENST00000650978.1:c.3718C>T | ||
| ENST00000260947.8:c.*9C>T | ENSP00000260947.4:n.*9C>T | |
| ENST00000432456.5:c.486C>T | ||
| ENST00000471590.5:n.678C>T | ||
| ENST00000613374.4:c.*9C>T | ENSP00000484464.1:n.*9C>T | |
| ENST00000613706.4:c.*9C>T | ENSP00000484976.1:n.*9C>T | |
| ENST00000617164.4:c.*9C>T | ENSP00000480470.1:n.*9C>T | |
| ENST00000619009.4:c.*9C>T | ENSP00000482293.1:n.*9C>T | |
| NM_000465.3:c.*9C>T | NP_000456.2:n.*9C>T | |
| NM_001282543.1:c.*9C>T | NP_001269472.1:n.*9C>T | |
| NM_001282545.1:c.*9C>T | NP_001269474.1:n.*9C>T | |
| NM_001282548.1:c.*9C>T | NP_001269477.1:n.*9C>T | |
| NM_001282549.1:c.*9C>T | NP_001269478.1:n.*9C>T | |
| NR_104212.1:n.2336C>T | ||
| NR_104215.1:n.2279C>T | ||
| NR_104216.1:n.1535C>T | ||
| XM_011511567.1:c.*9C>T | XP_011509869.1:n.*9C>T | |
| XM_017004613.1:c.*9C>T | XP_016860102.1:n.*9C>T | |
| XR_002959322.1:n.2709C>T | ||
| NM_000465.4:c.*9C>T MANE Select | NP_000456.2:n.*9C>T | |
| NM_001282543.2:c.*9C>T | NP_001269472.1:n.*9C>T | |
| NM_001282545.2:c.*9C>T | NP_001269474.1:n.*9C>T | |
| NM_001282548.2:c.*9C>T | NP_001269477.1:n.*9C>T | |
| NM_001282549.2:c.*9C>T | NP_001269478.1:n.*9C>T | |
| NR_104212.2:n.2308C>T | ||
| NR_104215.2:n.2251C>T | ||
| NR_104216.2:n.1507C>T |