Linked Data
ClinVar Variation Id:
2419965
ClinVar RCV Id:
RCV003118490
dbSNP Id:
rs1189166320
gnomAD v4:
2-72887470-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.72887470C>T , CM000664.2:g.72887470C>T | GRCh38 |
| NC_000002.11:g.73114599C>T , CM000664.1:g.73114599C>T | GRCh37 |
| NC_000002.10:g.72968107C>T | NCBI36 |
| NG_008234.1:g.5088C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234454.6:c.38C>T MANE Select | ENSP00000234454.5:p.Thr13Ile | |
| ENST00000234454.5:c.38C>T | ENSP00000234454.5:p.Thr13Ile | |
| ENST00000498749.1:n.89C>T | ||
| NM_003124.4:c.38C>T | NP_003115.1:p.Thr13Ile | |
| NM_003124.5:c.38C>T MANE Select | NP_003115.1:p.Thr13Ile |