Linked Data
ClinVar Variation Id:
7985
ClinVar RCV Id:
RCV000008449
dbSNP Id:
rs121909190
PubMed:
PMID:17343269
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19116766C>T , CM000669.2:g.19116766C>T | GRCh38 |
| NC_000007.13:g.19156389C>T , CM000669.1:g.19156389C>T | GRCh37 |
| NC_000007.12:g.19122914C>T | NCBI36 |
| NG_008114.1:g.5907G>A | |
| NG_008114.2:g.5907G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000242261.6:c.556G>A MANE Select | ENSP00000242261.5:p.Ala186Thr | |
| ENST00000242261.5:c.556G>A | ENSP00000242261.5:p.Ala186Thr | |
| ENST00000354571.5:c.353G>A | ||
| ENST00000443687.5:c.159G>A | ||
| NM_000474.3:c.556G>A | NP_000465.1:p.Ala186Thr | |
| XM_011515496.1:c.556G>A | XP_011513798.1:p.Ala186Thr | |
| NR_149001.1:n.907G>A | ||
| NM_000474.4:c.556G>A MANE Select | NP_000465.1:p.Ala186Thr | |
| NR_149001.2:n.871G>A |