Linked Data
ClinVar Variation Id:
496554
dbSNP Id:
rs757548934
ExAC:
4:146572222 C / T
gnomAD v2:
4-146572222-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.145651070C>T , CM000666.2:g.145651070C>T | GRCh38 |
| NC_000004.11:g.146572222C>T , CM000666.1:g.146572222C>T | GRCh37 |
| NC_000004.10:g.146791672C>T | NCBI36 |
| NG_007536.1:g.36773C>T | |
| NG_007536.2:g.57029C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541599.5:c.742C>T | ENSP00000442284.3:p.Gln248Ter | |
| ENST00000647947.1:c.*526C>T | ENSP00000496781.1:n.*526C>T | |
| ENST00000648388.1:c.742C>T | ENSP00000497046.1:p.Gln248Ter | |
| ENST00000649156.2:c.742C>T MANE Select | ENSP00000497008.1:p.Gln248Ter | |
| ENST00000649173.1:c.734-58C>T | ENSP00000497871.1:n.734-58C>T | |
| ENST00000649704.1:c.742C>T | ENSP00000497680.1:p.Gln248Ter | |
| ENST00000679563.1:c.742C>T | ENSP00000506503.1:p.Gln248Ter | |
| ENST00000679930.1:c.*261C>T | ENSP00000506293.1:n.*261C>T | |
| ENST00000281317.9:c.742C>T | ENSP00000281317.5:p.Gln248Ter | |
| ENST00000503730.1:n.152C>T | ||
| ENST00000511969.4:c.734-2924C>T | ENSP00000427422.1:n.734-2924C>T | |
| ENST00000541599.4:c.742C>T | ENSP00000442284.2:p.Gln248Ter | |
| NM_172250.2:c.742C>T | NP_758454.1:p.Gln248Ter | |
| XM_011531684.1:c.742C>T | XP_011529986.1:p.Gln248Ter | |
| XM_011531685.1:c.742C>T | XP_011529987.1:p.Gln248Ter | |
| XM_011531686.1:c.247C>T | XP_011529988.1:p.Gln83Ter | |
| NM_172250.3:c.742C>T MANE Select | NP_758454.1:p.Gln248Ter | |
| XM_011531684.3:c.742C>T | XP_011529986.1:p.Gln248Ter | |
| XM_011531685.2:c.742C>T | XP_011529987.1:p.Gln248Ter | |
| XM_011531686.2:c.247C>T | XP_011529988.1:p.Gln83Ter | |
| NM_001375644.1:c.742C>T | NP_001362573.1:p.Gln248Ter |