Linked Data
dbSNP Id:
rs1263130630
gnomAD v2:
2-31763474-C-T
gnomAD v3:
2-31538404-C-T
gnomAD v4:
2-31538404-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31538404C>T , CM000664.2:g.31538404C>T | GRCh38 |
| NC_000002.11:g.31763474C>T , CM000664.1:g.31763474C>T | GRCh37 |
| NC_000002.10:g.31616978C>T | NCBI36 |
| NG_008365.1:g.47568G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622030.2:c.282-4638G>A MANE Select | ENSP00000477587.1:n.282-4638G>A | |
| ENST00000622030.1:c.282-4638G>A | ENSP00000477587.1:n.282-4638G>A | |
| NM_000348.3:c.282-4638G>A | NP_000339.2:n.282-4638G>A | |
| XM_011533068.1:c.282-4638G>A | XP_011531370.1:n.282-4638G>A | |
| XM_011533069.1:c.60-4638G>A | XP_011531371.1:n.60-4638G>A | |
| XM_011533070.1:c.27-4638G>A | XP_011531372.1:n.27-4638G>A | |
| XM_011533071.1:c.27-4638G>A | XP_011531373.1:n.27-4638G>A | |
| XM_011533072.1:c.27-4638G>A | XP_011531374.1:n.27-4638G>A | |
| XM_011533069.2:c.60-4638G>A | XP_011531371.1:n.60-4638G>A | |
| XM_011533072.2:c.27-4638G>A | XP_011531374.1:n.27-4638G>A | |
| NM_000348.4:c.282-4638G>A MANE Select | NP_000339.2:n.282-4638G>A |