Linked Data
ClinVar Variation Id:
2973772
ClinVar RCV Id:
RCV003833346
dbSNP Id:
rs758891206
ExAC:
4:128554320 C / T
gnomAD v2:
4-128554320-C-T
gnomAD v4:
4-127633165-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.127633165C>T , CM000666.2:g.127633165C>T | GRCh38 |
| NC_000004.11:g.128554320C>T , CM000666.1:g.128554320C>T | GRCh37 |
| NC_000004.10:g.128773770C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335251.11:c.131C>T MANE Select | ENSP00000334003.5:p.Ala44Val | |
| ENST00000335251.10:c.131C>T | ENSP00000334003.5:p.Ala44Val | |
| ENST00000503626.5:c.131C>T | ENSP00000426287.1:p.Ala44Val | |
| ENST00000503952.5:c.131C>T | ENSP00000421995.1:p.Ala44Val | |
| ENST00000504491.1:c.89+9674C>T | ENSP00000422550.1:n.89+9674C>T | |
| NM_015693.3:c.131C>T | NP_056508.2:p.Ala44Val | |
| XM_011531844.1:c.131C>T | XP_011530146.1:p.Ala44Val | |
| XM_011531845.1:c.131C>T | XP_011530147.1:p.Ala44Val | |
| XM_011531846.1:c.89+9674C>T | XP_011530148.1:n.89+9674C>T | |
| XM_011531849.1:c.131C>T | XP_011530151.1:p.Ala44Val | |
| XM_011531850.1:c.131C>T | XP_011530152.1:p.Ala44Val | |
| XM_011531851.1:c.131C>T | XP_011530153.1:p.Ala44Val | |
| XR_938720.1:n.234C>T | ||
| XM_011531844.3:c.131C>T | XP_011530146.1:p.Ala44Val | |
| XM_011531845.3:c.131C>T | XP_011530147.1:p.Ala44Val | |
| XM_011531849.3:c.131C>T | XP_011530151.1:p.Ala44Val | |
| XM_011531850.3:c.131C>T | XP_011530152.1:p.Ala44Val | |
| XM_011531851.3:c.131C>T | XP_011530153.1:p.Ala44Val | |
| XM_017008026.2:c.131C>T | XP_016863515.1:p.Ala44Val | |
| XR_001741201.1:n.221+9674C>T | ||
| NM_015693.4:c.131C>T MANE Select | NP_056508.2:p.Ala44Val |