ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000292 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.19931333A>G , CM000664.2:g.19931333A>G | GRCh38 |
| NC_000002.11:g.20131094A>G , CM000664.1:g.20131094A>G | GRCh37 |
| NC_000002.10:g.19994575A>G | NCBI36 |
| NG_021212.1:g.63791T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281405.9:c.2900T>C MANE Select | ENSP00000281405.5:p.Ile967Thr | |
| ENST00000345530.8:c.2933T>C MANE Plus Clinical | ENSP00000314444.5:p.Ile978Thr | |
| ENST00000281405.8:c.2900T>C | ENSP00000281405.4:p.Ile967Thr | |
| ENST00000345530.7:c.2933T>C | ENSP00000314444.5:p.Ile978Thr | |
| ENST00000414212.5:c.*215T>C | ENSP00000390802.1:n.*215T>C | |
| ENST00000445063.5:c.2100T>C | ||
| NM_001006657.1:c.2933T>C | NP_001006658.1:p.Ile978Thr | |
| NM_020779.3:c.2900T>C | NP_065830.2:p.Ile967Thr | |
| XM_011533007.1:c.1628T>C | XP_011531309.1:p.Ile543Thr | |
| XR_426989.2:n.2833T>C | ||
| XM_011533007.2:c.1628T>C | XP_011531309.1:p.Ile543Thr | |
| XR_426989.3:n.2833T>C | ||
| NM_001006657.2:c.2933T>C MANE Plus Clinical | NP_001006658.1:p.Ile978Thr | |
| NM_020779.4:c.2900T>C MANE Select | NP_065830.2:p.Ile967Thr |