Linked Data
dbSNP Id:
rs770560672
ExAC:
3:182870189 C / A
gnomAD v2:
3-182870189-C-A
gnomAD v3:
3-183152401-C-A
gnomAD v4:
3-183152401-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.183152401C>A , CM000665.2:g.183152401C>A | GRCh38 |
| NC_000003.11:g.182870189C>A , CM000665.1:g.182870189C>A | GRCh37 |
| NC_000003.10:g.184352883C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265598.8:c.862G>T MANE Select | ENSP00000265598.3:p.Gly288Ter | |
| ENST00000265598.7:c.862G>T | ENSP00000265598.3:p.Gly288Ter | |
| ENST00000466939.1:c.790G>T | ENSP00000418912.1:p.Gly264Ter | |
| NM_014398.3:c.862G>T | NP_055213.2:p.Gly288Ter | |
| XM_005247360.3:c.862G>T | XP_005247417.1:p.Gly288Ter | |
| XM_006713586.2:c.790G>T | XP_006713649.1:p.Gly264Ter | |
| XM_011512688.1:c.862G>T | XP_011510990.1:p.Gly288Ter | |
| XR_924123.1:n.922G>T | ||
| XR_924124.1:n.922G>T | ||
| XM_005247360.5:c.862G>T | XP_005247417.1:p.Gly288Ter | |
| XM_006713586.3:c.790G>T | XP_006713649.1:p.Gly264Ter | |
| XM_011512688.2:c.862G>T | XP_011510990.1:p.Gly288Ter | |
| XM_024453453.1:c.790G>T | XP_024309221.1:p.Gly264Ter | |
| NM_014398.4:c.862G>T MANE Select | NP_055213.2:p.Gly288Ter |