Linked Data
dbSNP Id:
rs1226998407
gnomAD v2:
2-31793306-C-T
gnomAD v3:
2-31568236-C-T
gnomAD v4:
2-31568236-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31568236C>T , CM000664.2:g.31568236C>T | GRCh38 |
| NC_000002.11:g.31793306C>T , CM000664.1:g.31793306C>T | GRCh37 |
| NC_000002.10:g.31646810C>T | NCBI36 |
| NG_008365.1:g.17736G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622030.2:c.281+12384G>A MANE Select | ENSP00000477587.1:n.281+12384G>A | |
| ENST00000622030.1:c.281+12384G>A | ENSP00000477587.1:n.281+12384G>A | |
| NM_000348.3:c.281+12384G>A | NP_000339.2:n.281+12384G>A | |
| XM_011533068.1:c.281+12384G>A | XP_011531370.1:n.281+12384G>A | |
| XM_011533070.1:c.27-34470G>A | XP_011531372.1:n.27-34470G>A | |
| XM_011533071.1:c.27-34470G>A | XP_011531373.1:n.27-34470G>A | |
| XM_011533072.1:c.27-34470G>A | XP_011531374.1:n.27-34470G>A | |
| XM_011533072.2:c.27-34470G>A | XP_011531374.1:n.27-34470G>A | |
| NM_000348.4:c.281+12384G>A MANE Select | NP_000339.2:n.281+12384G>A |