Linked Data
ClinVar Variation Id:
2173287
ClinVar RCV Id:
RCV002598602
dbSNP Id:
rs141673565
ExAC:
4:56277957 C / T
gnomAD v2:
4-56277957-C-T
gnomAD v3:
4-55411790-C-T
gnomAD v4:
4-55411790-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55411790C>T , CM000666.2:g.55411790C>T | GRCh38 |
| NC_000004.11:g.56277957C>T , CM000666.1:g.56277957C>T | GRCh37 |
| NC_000004.10:g.55972714C>T | NCBI36 |
| NG_032881.1:g.20878C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381334.10:c.384C>T MANE Select | ENSP00000370736.5:p.Thr128= | |
| ENST00000381334.9:c.384C>T | ENSP00000370736.5:p.Thr128= | |
| ENST00000502797.1:n.273C>T | ||
| ENST00000506198.5:c.208-12748C>T | ENSP00000425449.1:n.208-12748C>T | |
| ENST00000508404.5:c.*256C>T | ENSP00000422639.1:n.*256C>T | |
| ENST00000511710.1:n.508C>T | ||
| NM_018475.4:c.384C>T | NP_060945.2:p.Thr128= | |
| NR_073070.1:n.764C>T | ||
| XM_011534394.1:c.384C>T | XP_011532696.1:p.Thr128= | |
| XM_011534394.3:c.384C>T | XP_011532696.1:p.Thr128= | |
| XM_017008412.1:c.195C>T | XP_016863901.1:p.Thr65= | |
| XR_001741287.2:n.921C>T | ||
| NM_018475.5:c.384C>T MANE Select | NP_060945.2:p.Thr128= | |
| NR_073070.2:n.720C>T |