Linked Data
dbSNP Id:
rs10903129
gnomAD v2:
1-25768937-A-G
gnomAD v3:
1-25442446-A-G
gnomAD v4:
1-25442446-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.25442446A>G , CM000663.2:g.25442446A>G | GRCh38 |
| NC_000001.10:g.25768937A>G , CM000663.1:g.25768937A>G | GRCh37 |
| NC_000001.9:g.25641524A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374343.5:c.81-4316A>G MANE Select | ENSP00000363463.4:n.81-4316A>G | |
| ENST00000647928.1:c.81-4316A>G | ENSP00000497738.1:n.81-4316A>G | |
| ENST00000374343.4:c.81-4316A>G | ENSP00000363463.4:n.81-4316A>G | |
| ENST00000399766.7:c.81-4316A>G | ENSP00000382668.3:n.81-4316A>G | |
| NM_001282564.1:c.81-4316A>G | NP_001269493.1:n.81-4316A>G | |
| NM_018202.5:c.81-4316A>G | NP_060672.2:n.81-4316A>G | |
| XM_005245931.1:c.81-4316A>G | XP_005245988.1:n.81-4316A>G | |
| XM_011541704.1:c.-531-4316A>G | XP_011540006.1:n.-531-4316A>G | |
| XM_005245931.2:c.81-4316A>G | XP_005245988.1:n.81-4316A>G | |
| XM_011541704.3:c.-531-4316A>G | XP_011540006.1:n.-531-4316A>G | |
| NM_018202.6:c.81-4316A>G MANE Select | NP_060672.2:n.81-4316A>G | |
| NM_001282564.2:c.81-4316A>G | NP_001269493.1:n.81-4316A>G |