Linked Data
dbSNP Id:
rs151008449
ExAC:
2:239306123 A / G
gnomAD v2:
2-239306123-A-G
gnomAD v3:
2-238397482-A-G
gnomAD v4:
2-238397482-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.238397482A>G , CM000664.2:g.238397482A>G | GRCh38 |
| NC_000002.11:g.239306123A>G , CM000664.1:g.239306123A>G | GRCh37 |
| NC_000002.10:g.238970862A>G | NCBI36 |
| NG_053055.1:g.81994A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373327.5:c.1713A>G MANE Select | ENSP00000362424.4:p.Ala571= | |
| ENST00000373327.4:c.1713A>G | ENSP00000362424.4:p.Ala571= | |
| ENST00000391993.7:c.1515A>G | ENSP00000375851.3:p.Ala505= | |
| ENST00000462122.1:n.724A>G | ||
| ENST00000483951.1:n.61A>G | ||
| NM_001139490.1:c.1515A>G | NP_001132962.1:p.Ala505= | |
| NM_015650.3:c.1713A>G | NP_056465.2:p.Ala571= | |
| XM_006712414.1:c.1512A>G | XP_006712477.1:p.Ala504= | |
| XM_011510944.1:c.1815A>G | XP_011509246.1:p.Ala605= | |
| XM_011510945.1:c.1776A>G | XP_011509247.1:p.Ala592= | |
| XM_011510946.1:c.1743A>G | XP_011509248.1:p.Ala581= | |
| XM_011510947.1:c.1683A>G | XP_011509249.1:p.Ala561= | |
| XM_011510948.1:c.1617A>G | XP_011509250.1:p.Ala539= | |
| XM_011510950.1:c.681A>G | XP_011509252.1:p.Ala227= | |
| XR_922902.1:n.2012A>G | ||
| XM_006712414.2:c.1512A>G | XP_006712477.1:p.Ala504= | |
| XM_011510944.2:c.1815A>G | XP_011509246.1:p.Ala605= | |
| XM_011510945.2:c.1776A>G | XP_011509247.1:p.Ala592= | |
| XM_011510946.2:c.1743A>G | XP_011509248.1:p.Ala581= | |
| XM_011510947.2:c.1683A>G | XP_011509249.1:p.Ala561= | |
| XM_011510948.2:c.1617A>G | XP_011509250.1:p.Ala539= | |
| XM_011510950.2:c.681A>G | XP_011509252.1:p.Ala227= | |
| XM_017003789.1:c.1812A>G | XP_016859278.1:p.Ala604= | |
| XR_001738696.1:n.1541A>G | ||
| XR_001738697.1:n.1538A>G | ||
| XR_922902.2:n.2075A>G | ||
| NM_015650.4:c.1713A>G MANE Select | NP_056465.2:p.Ala571= |