Linked Data
ClinVar Variation Id:
337278
dbSNP Id:
rs61733104
ExAC:
2:85787993 G / T
gnomAD v2:
2-85787993-G-T
gnomAD v3:
2-85560870-G-T
gnomAD v4:
2-85560870-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85560870G>T , CM000664.2:g.85560870G>T | GRCh38 |
| NC_000002.11:g.85787993G>T , CM000664.1:g.85787993G>T | GRCh37 |
| NC_000002.10:g.85641504G>T | NCBI36 |
| NG_011811.2:g.5665C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000482662.2:n.226C>A | ||
| ENST00000496962.2:c.159C>A | ENSP00000508856.1:p.Thr53= | |
| ENST00000685865.1:n.251C>A | ||
| ENST00000687250.1:n.262C>A | ||
| ENST00000687995.1:n.200C>A | ||
| ENST00000688205.1:c.159C>A | ENSP00000509673.1:p.Thr53= | |
| ENST00000688788.1:n.251C>A | ||
| ENST00000689276.1:c.159C>A | ENSP00000510012.1:p.Thr53= | |
| ENST00000689576.1:c.159C>A | ENSP00000508712.1:p.Thr53= | |
| ENST00000690108.1:c.159C>A | ENSP00000510617.1:p.Thr53= | |
| ENST00000690468.1:c.43+516C>A | ENSP00000509078.1:n.43+516C>A | |
| ENST00000690595.1:c.159C>A | ENSP00000508979.1:p.Thr53= | |
| ENST00000691348.1:c.43+516C>A | ENSP00000509369.1:n.43+516C>A | |
| ENST00000691410.1:c.159C>A | ENSP00000508479.1:p.Thr53= | |
| ENST00000693287.1:c.-67+516C>A | ENSP00000510264.1:n.-67+516C>A | |
| ENST00000693681.1:c.43+516C>A | ENSP00000510789.1:n.43+516C>A | |
| ENST00000233838.9:c.159C>A MANE Select | ENSP00000233838.3:p.Thr53= | |
| ENST00000233838.8:c.159C>A | ENSP00000233838.3:p.Thr53= | |
| ENST00000421496.5:c.43+516C>A | ENSP00000400384.1:n.43+516C>A | |
| ENST00000423570.5:c.159C>A | ENSP00000389426.1:p.Thr53= | |
| ENST00000428479.3:c.43+516C>A | ENSP00000390748.3:n.43+516C>A | |
| ENST00000430215.7:c.43+516C>A | ENSP00000408045.3:n.43+516C>A | |
| ENST00000465637.5:n.108+516C>A | ||
| ENST00000481541.1:n.108+516C>A | ||
| ENST00000496962.1:n.278C>A | ||
| NM_000821.5:c.159C>A | NP_000812.2:p.Thr53= | |
| NM_000821.6:c.159C>A | NP_000812.2:p.Thr53= | |
| NM_001142269.2:c.43+516C>A | NP_001135741.1:n.43+516C>A | |
| NM_001142269.3:c.43+516C>A | NP_001135741.1:n.43+516C>A | |
| NM_001311312.1:c.159C>A | NP_001298241.1:p.Thr53= | |
| XM_005264259.3:c.159C>A | XP_005264316.1:p.Thr53= | |
| XM_011532764.1:c.-500C>A | XP_011531066.1:n.-500C>A | |
| XM_011532765.1:c.-445+516C>A | XP_011531067.1:n.-445+516C>A | |
| XR_939677.1:n.224C>A | ||
| XM_005264259.5:c.159C>A | XP_005264316.1:p.Thr53= | |
| XM_011532764.3:c.-500C>A | XP_011531066.1:n.-500C>A | |
| XM_011532765.3:c.-445+516C>A | XP_011531067.1:n.-445+516C>A | |
| XM_017003803.2:c.43+516C>A | XP_016859292.1:n.43+516C>A | |
| XR_001738703.2:n.224C>A | ||
| NM_000821.7:c.159C>A MANE Select | NP_000812.2:p.Thr53= | |
| NM_001142269.4:c.43+516C>A | NP_001135741.1:n.43+516C>A | |
| NM_001311312.2:c.159C>A | NP_001298241.1:p.Thr53= |