Linked Data
ClinVar Variation Id:
968745
ClinVar RCV Id:
RCV001243953
dbSNP Id:
rs1184414721
gnomAD v2:
2-20130310-T-C
gnomAD v3:
2-19930549-T-C
gnomAD v4:
2-19930549-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.19930549T>C , CM000664.2:g.19930549T>C | GRCh38 |
| NC_000002.11:g.20130310T>C , CM000664.1:g.20130310T>C | GRCh37 |
| NC_000002.10:g.19993791T>C | NCBI36 |
| NG_021212.1:g.64575A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281405.9:c.2968A>G MANE Select | ENSP00000281405.5:p.Thr990Ala | |
| ENST00000345530.8:c.3001A>G MANE Plus Clinical | ENSP00000314444.5:p.Thr1001Ala | |
| ENST00000281405.8:c.2968A>G | ENSP00000281405.4:p.Thr990Ala | |
| ENST00000345530.7:c.3001A>G | ENSP00000314444.5:p.Thr1001Ala | |
| ENST00000414212.5:c.*283A>G | ENSP00000390802.1:n.*283A>G | |
| ENST00000445063.5:c.2168A>G | ||
| NM_001006657.1:c.3001A>G | NP_001006658.1:p.Thr1001Ala | |
| NM_020779.3:c.2968A>G | NP_065830.2:p.Thr990Ala | |
| XM_011533007.1:c.1696A>G | XP_011531309.1:p.Thr566Ala | |
| XR_426989.2:n.2901A>G | ||
| XM_011533007.2:c.1696A>G | XP_011531309.1:p.Thr566Ala | |
| XR_426989.3:n.2901A>G | ||
| NM_001006657.2:c.3001A>G MANE Plus Clinical | NP_001006658.1:p.Thr1001Ala | |
| NM_020779.4:c.2968A>G MANE Select | NP_065830.2:p.Thr990Ala |