Linked Data
ClinVar Variation Id:
38903
dbSNP Id:
rs1800472
ExAC:
19:41847860 G / A
gnomAD v2:
19-41847860-G-A
gnomAD v3:
19-41341955-G-A
gnomAD v4:
19-41341955-G-A
PubMed:
PMID:20301335
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41341955G>A , CM000681.2:g.41341955G>A | GRCh38 |
| NC_000019.9:g.41847860G>A , CM000681.1:g.41847860G>A | GRCh37 |
| NC_000019.8:g.46539700G>A | NCBI36 |
| NG_013364.1:g.16972C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000221930.6:c.788C>T MANE Select | ENSP00000221930.4:p.Thr263Ile | |
| ENST00000600196.2:c.712+215C>T | ENSP00000504008.1:n.712+215C>T | |
| ENST00000677934.1:c.634+2792C>T | ENSP00000504769.1:n.634+2792C>T | |
| ENST00000221930.5:c.788C>T | ENSP00000221930.4:p.Thr263Ile | |
| ENST00000598758.5:c.76C>T | ||
| ENST00000600196.1:n.172+215C>T | ||
| NM_000660.5:c.788C>T | NP_000651.3:p.Thr263Ile | |
| XM_011527242.1:c.791C>T | XP_011525544.1:p.Thr264Ile | |
| NM_000660.6:c.788C>T | NP_000651.3:p.Thr263Ile | |
| XM_011527242.2:c.791C>T | XP_011525544.1:p.Thr264Ile | |
| NM_000660.7:c.788C>T MANE Select | NP_000651.3:p.Thr263Ile |