Linked Data
dbSNP Id:
rs779903010
ExAC:
4:42965198 G / T
gnomAD v2:
4-42965198-G-T
gnomAD v4:
4-42963181-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.42963181G>T , CM000666.2:g.42963181G>T | GRCh38 |
| NC_000004.11:g.42965198G>T , CM000666.1:g.42965198G>T | GRCh37 |
| NC_000004.10:g.42659955G>T | NCBI36 |
| NG_027718.1:g.74916G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399770.3:c.627+47G>T MANE Select | ENSP00000382670.2:n.627+47G>T | |
| ENST00000399770.2:c.627+47G>T | ENSP00000382670.2:n.627+47G>T | |
| NM_001080476.2:c.627+47G>T | NP_001073945.1:n.627+47G>T | |
| XM_011513691.1:c.264+47G>T | XP_011511993.1:n.264+47G>T | |
| NM_001080476.3:c.627+47G>T MANE Select | NP_001073945.1:n.627+47G>T |