Linked Data
ClinVar Variation Id:
346084
dbSNP Id:
rs117179004
ExAC:
3:50338047 G / A
gnomAD v2:
3-50338047-G-A
gnomAD v3:
3-50300616-G-A
gnomAD v4:
3-50300616-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50300616G>A , CM000665.2:g.50300616G>A | GRCh38 |
| NC_000003.11:g.50338047G>A , CM000665.1:g.50338047G>A | GRCh37 |
| NC_000003.10:g.50313051G>A | NCBI36 |
| NG_009295.1:g.16766C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395144.7:c.1175C>T MANE Select | ENSP00000378576.2:p.Thr392Met | |
| ENST00000266031.8:c.1175C>T | ENSP00000266031.4:p.Thr392Met | |
| ENST00000320295.12:c.1175C>T | ENSP00000346068.5:p.Thr392Met | |
| ENST00000395143.6:c.1085C>T | ENSP00000378575.2:p.Thr362Met | |
| ENST00000395144.6:c.1175C>T | ENSP00000378576.2:p.Thr392Met | |
| ENST00000447605.2:c.398C>T | ENSP00000390149.2:p.Thr133Met | |
| ENST00000457214.6:c.629C>T | ENSP00000393358.2:p.Thr210Met | |
| ENST00000618175.4:c.1175C>T | ENSP00000477903.1:p.Thr392Met | |
| NM_033159.3:c.1175C>T | NP_149349.2:p.Thr392Met | |
| NM_153281.1:c.1175C>T | NP_695013.1:p.Thr392Met | |
| NM_153282.2:c.1085C>T | NP_695014.1:p.Thr362Met | |
| NM_153283.2:c.629C>T | NP_695015.1:p.Thr210Met | |
| NM_153285.2:c.398C>T | NP_695017.1:p.Thr133Met | |
| NR_047690.1:n.1820C>T | ||
| XM_011533667.1:c.1175C>T | XP_011531969.1:p.Thr392Met | |
| XM_011533668.1:c.1175C>T | XP_011531970.1:p.Thr392Met | |
| XM_011533669.1:c.1175C>T | XP_011531971.1:p.Thr392Met | |
| XM_011533667.2:c.1175C>T | XP_011531969.1:p.Thr392Met | |
| XM_011533668.2:c.1175C>T | XP_011531970.1:p.Thr392Met | |
| XM_011533669.2:c.1175C>T | XP_011531971.1:p.Thr392Met | |
| NM_033159.4:c.1175C>T MANE Select | NP_149349.2:p.Thr392Met | |
| NM_153282.3:c.1085C>T | NP_695014.1:p.Thr362Met | |
| NM_153283.3:c.629C>T | NP_695015.1:p.Thr210Met | |
| NM_153285.3:c.398C>T | NP_695017.1:p.Thr133Met | |
| NR_047690.2:n.1793C>T | ||
| NM_153281.2:c.1175C>T | NP_695013.1:p.Thr392Met |