Linked Data
ClinVar Variation Id:
14145
dbSNP Id:
rs121913623
ExAC:
17:10551909 C / T
gnomAD v3:
17-10648592-C-T
gnomAD v4:
17-10648592-C-T
PubMed:
PMID:18695058
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10648592C>T , CM000679.2:g.10648592C>T | GRCh38 |
| NC_000017.10:g.10551909C>T , CM000679.1:g.10551909C>T | GRCh37 |
| NC_000017.9:g.10492634C>T | NCBI36 |
| NG_011537.1:g.13707G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000583535.6:c.700G>A MANE Select | ENSP00000464317.1:p.Ala234Thr | |
| ENST00000583535.5:c.700G>A | ENSP00000464317.1:p.Ala234Thr | |
| NM_002470.3:c.700G>A | NP_002461.2:p.Ala234Thr | |
| XM_011523870.1:c.700G>A | XP_011522172.1:p.Ala234Thr | |
| XM_011523871.1:c.700G>A | XP_011522173.1:p.Ala234Thr | |
| XM_011523872.1:c.700G>A | XP_011522174.1:p.Ala234Thr | |
| XM_011523870.3:c.700G>A | XP_011522172.1:p.Ala234Thr | |
| XM_011523871.2:c.700G>A | XP_011522173.1:p.Ala234Thr | |
| NM_002470.4:c.700G>A MANE Select | NP_002461.2:p.Ala234Thr |