Linked Data
dbSNP Id:
rs764778271
ExAC:
11:46747414 G / T
gnomAD v2:
11-46747414-G-T
gnomAD v4:
11-46725864-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46725864G>T , CM000673.2:g.46725864G>T | GRCh38 |
| NC_000011.9:g.46747414G>T , CM000673.1:g.46747414G>T | GRCh37 |
| NC_000011.8:g.46703990G>T | NCBI36 |
| NG_008953.1:g.11672G>T , LRG_551:g.11672G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311907.10:c.565G>T MANE Select | ENSP00000308541.5:p.Asp189Tyr | |
| ENST00000311907.9:c.565G>T | ENSP00000308541.5:p.Asp189Tyr | |
| ENST00000442468.1:c.535G>T | ENSP00000387413.1:p.Asp179Tyr | |
| ENST00000490274.1:n.345G>T | ||
| ENST00000530231.5:c.565G>T | ENSP00000433907.1:p.Asp189Tyr | |
| NM_000506.3:c.565G>T | NP_000497.1:p.Asp189Tyr | |
| NM_000506.4:c.565G>T , LRG_551t1:c.565G>T | NP_000497.1:p.Asp189Tyr | |
| NM_001311257.1:c.517G>T | NP_001298186.1:p.Asp173Tyr | |
| XR_428840.2:n.609G>T | ||
| XR_428840.4:n.600G>T | ||
| NM_000506.5:c.565G>T MANE Select | NP_000497.1:p.Asp189Tyr | |
| NM_001311257.2:c.517G>T | NP_001298186.1:p.Asp173Tyr |