Linked Data
ClinVar Variation Id:
14196
ClinVar RCV Id:
RCV000015260
dbSNP Id:
rs121913595
PubMed:
PMID:15184631
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161306785G>T , CM000663.2:g.161306785G>T | GRCh38 |
| NC_000001.10:g.161276575G>T , CM000663.1:g.161276575G>T | GRCh37 |
| NC_000001.9:g.159543199G>T | NCBI36 |
| NG_008055.1:g.8188C>A , LRG_256:g.8188C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000526189.3:c.367+4C>A | ENSP00000488104.2:n.367+4C>A | |
| ENST00000533357.5:c.371C>A MANE Select | ENSP00000432943.1:p.Thr124Lys | |
| ENST00000672287.2:c.-218C>A | ENSP00000499818.2:n.-218C>A | |
| ENST00000672602.2:c.371C>A | ENSP00000500814.2:p.Thr124Lys | |
| ENST00000674861.1:n.434C>A | ||
| ENST00000463290.5:c.371C>A | ENSP00000431538.1:p.Thr124Lys | |
| ENST00000491222.5:c.-218C>A | ENSP00000431441.1:n.-218C>A | |
| ENST00000526189.2:c.111+4C>A | ||
| ENST00000533357.4:c.371C>A | ENSP00000432943.1:p.Thr124Lys | |
| NM_000530.6:c.371C>A , LRG_256t1:c.371C>A | NP_000521.2:p.Thr124Lys | |
| NM_000530.7:c.371C>A | NP_000521.2:p.Thr124Lys | |
| NM_001315491.1:c.371C>A | NP_001302420.1:p.Thr124Lys | |
| XM_017001321.2:c.401C>A | XP_016856810.1:p.Thr134Lys | |
| NM_000530.8:c.371C>A MANE Select | NP_000521.2:p.Thr124Lys | |
| NM_001315491.2:c.371C>A | NP_001302420.1:p.Thr124Lys |