Linked Data
ClinVar Variation Id:
488888
ClinVar RCV Id:
RCV000579075
dbSNP Id:
rs1553262199
gnomAD v4:
1-183186354-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183186354T>C , CM000663.2:g.183186354T>C | GRCh38 |
| NC_000001.10:g.183155489T>C , CM000663.1:g.183155489T>C | GRCh37 |
| NC_000001.9:g.181422112T>C | NCBI36 |
| NG_007079.2:g.5091T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264144.5:c.2T>C MANE Select | ENSP00000264144.4:p.Met1Thr | |
| ENST00000264144.4:c.2T>C | ENSP00000264144.4:p.Met1Thr | |
| ENST00000493293.5:c.2T>C | ENSP00000432063.1:p.Met1Thr | |
| NM_005562.2:c.2T>C | NP_005553.2:p.Met1Thr | |
| NM_018891.2:c.2T>C | NP_061486.2:p.Met1Thr | |
| XM_017001273.2:c.2T>C | XP_016856762.1:p.Met1Thr | |
| NM_005562.3:c.2T>C MANE Select | NP_005553.2:p.Met1Thr | |
| NM_018891.3:c.2T>C | NP_061486.2:p.Met1Thr |