Linked Data
dbSNP Id:
rs777823444
ExAC:
11:113281405 G / T
gnomAD v2:
11-113281405-G-T
gnomAD v4:
11-113410683-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113410683G>T , CM000673.2:g.113410683G>T | GRCh38 |
| NC_000011.9:g.113281405G>T , CM000673.1:g.113281405G>T | GRCh37 |
| NC_000011.8:g.112786615G>T | NCBI36 |
| NG_008841.1:g.69597C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000362072.8:c.*44C>A MANE Select | ENSP00000354859.3:n.*44C>A | |
| ENST00000346454.7:c.*44C>A | ENSP00000278597.5:n.*44C>A | |
| ENST00000362072.7:c.*44C>A | ENSP00000354859.3:n.*44C>A | |
| ENST00000538967.5:c.1382C>A | ENSP00000438215.1:n.1382C>A | |
| ENST00000542968.5:c.*44C>A | ENSP00000442172.1:n.*44C>A | |
| ENST00000544518.5:c.*44C>A | ENSP00000441068.1:n.*44C>A | |
| NM_000795.3:c.*44C>A | NP_000786.1:n.*44C>A | |
| NM_016574.3:c.*44C>A | NP_057658.2:n.*44C>A | |
| XM_017017296.2:c.*44C>A | XP_016872785.1:n.*44C>A | |
| NM_000795.4:c.*44C>A MANE Select | NP_000786.1:n.*44C>A | |
| NM_016574.4:c.*44C>A | NP_057658.2:n.*44C>A |