Linked Data
dbSNP Id:
rs374815795
ExAC:
2:31754544 C / T
gnomAD v2:
2-31754544-C-T
gnomAD v3:
2-31529474-C-T
gnomAD v4:
2-31529474-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31529474C>T , CM000664.2:g.31529474C>T | GRCh38 |
| NC_000002.11:g.31754544C>T , CM000664.1:g.31754544C>T | GRCh37 |
| NC_000002.10:g.31608048C>T | NCBI36 |
| NG_008365.1:g.56498G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622030.2:c.548-17G>A MANE Select | ENSP00000477587.1:n.548-17G>A | |
| ENST00000622030.1:c.548-17G>A | ENSP00000477587.1:n.548-17G>A | |
| NM_000348.3:c.548-17G>A | NP_000339.2:n.548-17G>A | |
| XM_011533069.1:c.326-17G>A | XP_011531371.1:n.326-17G>A | |
| XM_011533070.1:c.293-17G>A | XP_011531372.1:n.293-17G>A | |
| XM_011533071.1:c.293-17G>A | XP_011531373.1:n.293-17G>A | |
| XM_011533072.1:c.293-17G>A | XP_011531374.1:n.293-17G>A | |
| XM_011533069.2:c.326-17G>A | XP_011531371.1:n.326-17G>A | |
| XM_011533072.2:c.293-17G>A | XP_011531374.1:n.293-17G>A | |
| NM_000348.4:c.548-17G>A MANE Select | NP_000339.2:n.548-17G>A |