Linked Data
dbSNP Id:
rs758925148
ExAC:
12:116429736 G / C
gnomAD v2:
12-116429736-G-C
gnomAD v4:
12-115991931-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115991931G>C , CM000674.2:g.115991931G>C | GRCh38 |
| NC_000012.11:g.116429736G>C , CM000674.1:g.116429736G>C | GRCh37 |
| NC_000012.10:g.114914119G>C | NCBI36 |
| NG_023366.1:g.290256C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.3023C>G MANE Select | ENSP00000281928.3:p.Ala1008Gly | |
| ENST00000548743.2:c.2993C>G | ENSP00000448553.2:p.Ala998Gly | |
| ENST00000549786.2:c.2451C>G | ||
| ENST00000648173.1:n.1818C>G | ||
| ENST00000648379.1:n.1391C>G | ||
| ENST00000648737.1:n.2787C>G | ||
| ENST00000648916.1:n.1034C>G | ||
| ENST00000649607.1:c.1207C>G | ||
| ENST00000650226.1:c.3023C>G | ENSP00000496981.1:p.Ala1008Gly | |
| ENST00000281928.7:c.3023C>G | ENSP00000281928.3:p.Ala1008Gly | |
| NM_015335.4:c.3023C>G | NP_056150.1:p.Ala1008Gly | |
| XM_011538080.1:c.3023C>G | XP_011536382.1:p.Ala1008Gly | |
| XM_011538081.1:c.3020C>G | XP_011536383.1:p.Ala1007Gly | |
| XM_011538082.1:c.2993C>G | XP_011536384.1:p.Ala998Gly | |
| XM_011538080.2:c.3023C>G | XP_011536382.1:p.Ala1008Gly | |
| XM_011538081.2:c.3020C>G | XP_011536383.1:p.Ala1007Gly | |
| XM_011538082.2:c.2993C>G | XP_011536384.1:p.Ala998Gly | |
| XM_017019090.1:c.3020C>G | XP_016874579.1:p.Ala1007Gly | |
| NM_015335.5:c.3023C>G MANE Select | NP_056150.1:p.Ala1008Gly |