Linked Data
dbSNP Id:
rs764423386
ExAC:
10:102005559 G / T
gnomAD v2:
10-102005559-G-T
gnomAD v4:
10-100245802-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100245802G>T , CM000672.2:g.100245802G>T | GRCh38 |
| NC_000010.10:g.102005559G>T , CM000672.1:g.102005559G>T | GRCh37 |
| NC_000010.9:g.101995549G>T | NCBI36 |
| NG_041811.1:g.26880C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354105.10:c.961C>A MANE Select | ENSP00000326411.6:p.Pro321Thr | |
| ENST00000354105.8:c.961C>A | ENSP00000326411.6:p.Pro321Thr | |
| ENST00000370379.1:c.226C>A | ENSP00000359405.1:p.Pro76Thr | |
| ENST00000466408.1:n.315C>A | ||
| ENST00000466955.5:n.502C>A | ||
| ENST00000468709.5:n.817C>A | ||
| ENST00000478047.1:n.1200-7571C>A | ||
| ENST00000482452.5:n.649C>A | ||
| ENST00000496796.5:n.725C>A | ||
| NM_001303404.1:c.961C>A | NP_001290333.1:p.Pro321Thr | |
| NM_001303405.1:c.550C>A | NP_001290334.1:p.Pro184Thr | |
| NM_001303406.1:c.550C>A | NP_001290335.1:p.Pro184Thr | |
| NM_001303407.1:c.226C>A | NP_001290336.1:p.Pro76Thr | |
| NM_018294.5:c.961C>A | NP_060764.3:p.Pro321Thr | |
| NM_018294.6:c.961C>A MANE Select | NP_060764.3:p.Pro321Thr | |
| NM_001303404.2:c.961C>A | NP_001290333.1:p.Pro321Thr | |
| NM_001303405.2:c.550C>A | NP_001290334.1:p.Pro184Thr | |
| NM_001303406.2:c.550C>A | NP_001290335.1:p.Pro184Thr | |
| NM_001303407.2:c.226C>A | NP_001290336.1:p.Pro76Thr |