Linked Data
dbSNP Id:
rs773273781
ExAC:
11:116703651 G / T
gnomAD v2:
11-116703651-G-T
gnomAD v3:
11-116832935-G-T
gnomAD v4:
11-116832935-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116832935G>T , CM000673.2:g.116832935G>T | GRCh38 |
| NC_000011.9:g.116703651G>T , CM000673.1:g.116703651G>T | GRCh37 |
| NC_000011.8:g.116208861G>T | NCBI36 |
| NG_008949.1:g.8028G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000227667.8:c.*51G>T MANE Select | ENSP00000227667.2:n.*51G>T | |
| ENST00000227667.7:c.*51G>T | ENSP00000227667.2:n.*51G>T | |
| ENST00000375345.3:c.*51G>T | ENSP00000364494.1:n.*51G>T | |
| ENST00000630701.1:c.405G>T | ENSP00000486182.1:n.405G>T | |
| NM_000040.1:c.*51G>T | NP_000031.1:n.*51G>T | |
| NM_000040.2:c.*51G>T | NP_000031.1:n.*51G>T | |
| NM_000040.3:c.*51G>T MANE Select | NP_000031.1:n.*51G>T |