Linked Data
dbSNP Id:
rs761832101
ExAC:
11:116703649 G / T
gnomAD v2:
11-116703649-G-T
gnomAD v4:
11-116832933-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116832933G>T , CM000673.2:g.116832933G>T | GRCh38 |
| NC_000011.9:g.116703649G>T , CM000673.1:g.116703649G>T | GRCh37 |
| NC_000011.8:g.116208859G>T | NCBI36 |
| NG_008949.1:g.8026G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000227667.8:c.*49G>T MANE Select | ENSP00000227667.2:n.*49G>T | |
| ENST00000227667.7:c.*49G>T | ENSP00000227667.2:n.*49G>T | |
| ENST00000375345.3:c.*49G>T | ENSP00000364494.1:n.*49G>T | |
| ENST00000630701.1:c.403G>T | ENSP00000486182.1:n.403G>T | |
| NM_000040.1:c.*49G>T | NP_000031.1:n.*49G>T | |
| NM_000040.2:c.*49G>T | NP_000031.1:n.*49G>T | |
| NM_000040.3:c.*49G>T MANE Select | NP_000031.1:n.*49G>T |