Linked Data
ClinVar Variation Id:
2504539
ClinVar RCV Id:
RCV003232000
dbSNP Id:
rs1950778684
gnomAD v3:
12-50085527-T-C
gnomAD v4:
12-50085527-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.50085527T>C , CM000674.2:g.50085527T>C | GRCh38 |
| NC_000012.11:g.50479310T>C , CM000674.1:g.50479310T>C | GRCh37 |
| NC_000012.10:g.48765577T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394963.9:c.158T>C MANE Select | ENSP00000378414.4:p.Met53Thr | |
| ENST00000381513.8:c.158T>C | ENSP00000370924.4:p.Met53Thr | |
| ENST00000394963.8:c.158T>C | ENSP00000378414.4:p.Met53Thr | |
| ENST00000547247.5:n.186T>C | ||
| ENST00000547637.1:n.175T>C | ||
| ENST00000550477.5:c.158T>C | ENSP00000448030.1:p.Met53Thr | |
| ENST00000551966.5:c.158T>C | ENSP00000447386.1:p.Met53Thr | |
| NM_003076.4:c.158T>C | NP_003067.3:p.Met53Thr | |
| NM_139071.2:c.158T>C | NP_620710.2:p.Met53Thr | |
| XM_005269107.3:c.158T>C | XP_005269164.2:p.Met53Thr | |
| XM_011538695.1:c.158T>C | XP_011536997.1:p.Met53Thr | |
| XR_944683.1:n.328T>C | ||
| XR_944684.1:n.328T>C | ||
| XM_005269107.4:c.158T>C | XP_005269164.2:p.Met53Thr | |
| XM_011538695.2:c.158T>C | XP_011536997.1:p.Met53Thr | |
| XR_944683.2:n.292T>C | ||
| XR_944684.2:n.292T>C | ||
| NM_003076.5:c.158T>C MANE Select | NP_003067.3:p.Met53Thr | |
| NM_139071.3:c.158T>C | NP_620710.2:p.Met53Thr |