Linked Data
ClinVar Variation Id:
199129
dbSNP Id:
rs769500215
ExAC:
7:128633948 A / G
gnomAD v2:
7-128633948-A-G
gnomAD v3:
7-128993894-A-G
gnomAD v4:
7-128993894-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128993894A>G , CM000669.2:g.128993894A>G | GRCh38 |
| NC_000007.13:g.128633948A>G , CM000669.1:g.128633948A>G | GRCh37 |
| NC_000007.12:g.128421184A>G | NCBI36 |
| NG_023428.1:g.66280T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265388.10:c.1179T>C MANE Select | ENSP00000265388.5:p.Thr393= | |
| ENST00000265388.9:c.1179T>C | ENSP00000265388.5:p.Thr393= | |
| ENST00000471166.1:c.1179T>C | ENSP00000418267.1:p.Thr393= | |
| ENST00000471234.5:c.1179T>C | ENSP00000418646.1:p.Thr393= | |
| ENST00000482320.5:c.981T>C | ENSP00000420089.1:p.Thr327= | |
| ENST00000627585.2:c.1179T>C | ENSP00000487231.1:p.Thr393= | |
| NM_001191028.2:c.1179T>C | NP_001177957.2:p.Thr393= | |
| NM_012470.3:c.1179T>C | NP_036602.1:p.Thr393= | |
| NR_034053.2:n.1743T>C | ||
| XM_011515989.1:c.981T>C | XP_011514291.1:p.Thr327= | |
| NM_001191028.3:c.1179T>C | NP_001177957.2:p.Thr393= | |
| NM_001382216.1:c.1179T>C | NP_001369145.1:p.Thr393= | |
| NM_001382217.1:c.1260T>C | NP_001369146.1:p.Thr420= | |
| NM_001382218.1:c.1179T>C | NP_001369147.1:p.Thr393= | |
| NM_001382219.1:c.1159-1804T>C | NP_001369148.1:n.1159-1804T>C | |
| NM_001382220.1:c.1179T>C | NP_001369149.1:p.Thr393= | |
| NM_001382221.1:c.1035T>C | NP_001369150.1:p.Thr345= | |
| NM_001382222.1:c.1032T>C | NP_001369151.1:p.Thr344= | |
| NM_001382223.1:c.1179T>C | NP_001369152.1:p.Thr393= | |
| NM_012470.4:c.1179T>C MANE Select | NP_036602.1:p.Thr393= | |
| NR_034053.3:n.1681T>C | ||
| NR_167911.1:n.1768T>C | ||
| NR_167912.1:n.1520T>C | ||
| NR_167913.1:n.1520T>C | ||
| NR_167914.1:n.1588T>C | ||
| NR_167915.1:n.1681T>C | ||
| NR_167916.1:n.1520T>C | ||
| NR_167917.1:n.1520T>C | ||
| NR_167918.1:n.1806T>C | ||
| NR_167919.1:n.1645T>C | ||
| NR_167920.1:n.1806T>C | ||
| NR_167921.1:n.1806T>C | ||
| NR_167922.1:n.1642T>C | ||
| NR_167923.1:n.1645T>C | ||
| NR_167924.1:n.1520T>C | ||
| NR_167925.1:n.1520T>C | ||
| NR_167926.1:n.1656T>C | ||
| NR_167927.1:n.1645T>C |