Linked Data
ClinVar Variation Id:
498703
dbSNP Id:
rs375907790
ExAC:
1:160249962 G / A
gnomAD v2:
1-160249962-G-A
gnomAD v3:
1-160280172-G-A
gnomAD v4:
1-160280172-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160280172G>A , CM000663.2:g.160280172G>A | GRCh38 |
| NC_000001.10:g.160249962G>A , CM000663.1:g.160249962G>A | GRCh37 |
| NC_000001.9:g.158516586G>A | NCBI36 |
| NG_008637.1:g.9980C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368072.10:c.669C>T MANE Select | ENSP00000357051.5:p.Ser223= | |
| ENST00000556710.6:c.*350C>T | ENSP00000451235.2:n.*350C>T | |
| ENST00000368072.9:c.669C>T | ENSP00000357051.5:p.Ser223= | |
| ENST00000392220.2:c.609C>T | ENSP00000376054.2:p.Ser203= | |
| ENST00000462644.5:c.*22C>T | ENSP00000435896.1:n.*22C>T | |
| ENST00000472750.5:c.*436C>T | ENSP00000434633.1:n.*436C>T | |
| ENST00000485079.1:c.279C>T | ENSP00000450870.1:p.Ser93= | |
| ENST00000495624.1:c.181C>T | ||
| ENST00000532508.5:n.751C>T | ||
| ENST00000532643.5:c.*22C>T | ENSP00000435915.1:n.*22C>T | |
| ENST00000556710.5:c.228C>T | ENSP00000451235.1:p.Ser76= | |
| NM_001193644.1:c.669C>T | NP_001180573.1:p.Ser223= | |
| NM_002857.3:c.669C>T | NP_002848.1:p.Ser223= | |
| NR_036492.1:n.586C>T | ||
| NR_036493.1:n.610C>T | ||
| NM_002857.4:c.669C>T MANE Select | NP_002848.1:p.Ser223= | |
| NR_036492.2:n.568C>T | ||
| NR_036493.2:n.592C>T |