Linked Data
dbSNP Id:
rs779901890
ExAC:
10:103531284 C / T
gnomAD v2:
10-103531284-C-T
gnomAD v4:
10-101771527-C-T
COSMIC:
COSM2058603
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.101771527C>T , CM000672.2:g.101771527C>T | GRCh38 |
| NC_000010.10:g.103531284C>T , CM000672.1:g.103531284C>T | GRCh37 |
| NC_000010.9:g.103521274C>T | NCBI36 |
| NG_007151.1:g.9544G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320185.7:c.380G>A MANE Select | ENSP00000321797.2:p.Arg127Gln | |
| ENST00000618991.5:c.68G>A | ENSP00000484420.1:p.Arg23Gln | |
| ENST00000344255.8:c.347G>A | ENSP00000340039.3:p.Arg116Gln | |
| ENST00000320185.6:c.380G>A | ENSP00000321797.2:p.Arg127Gln | |
| ENST00000344255.7:c.347G>A | ENSP00000340039.3:p.Arg116Gln | |
| ENST00000346714.7:c.260G>A | ENSP00000344306.3:p.Arg87Gln | |
| ENST00000347978.2:c.293G>A | ENSP00000321945.2:p.Arg98Gln | |
| ENST00000469792.6:c.*344G>A | ENSP00000473299.1:n.*344G>A | |
| ENST00000485728.1:n.256G>A | ||
| ENST00000618991.4:c.68G>A | ENSP00000484420.1:p.Arg23Gln | |
| NM_001206389.1:c.68G>A | NP_001193318.1:p.Arg23Gln | |
| NM_006119.4:c.293G>A | NP_006110.1:p.Arg98Gln | |
| NM_033163.3:c.380G>A | NP_149353.1:p.Arg127Gln | |
| NM_033164.3:c.347G>A | NP_149354.1:p.Arg116Gln | |
| NM_033165.3:c.260G>A | NP_149355.1:p.Arg87Gln | |
| XM_011539509.1:c.302G>A | XP_011537811.1:p.Arg101Gln | |
| XR_946251.1:n.308C>T | ||
| XR_946252.1:n.239C>T | ||
| XR_946253.1:n.237C>T | ||
| XR_946252.2:n.329C>T | ||
| XR_946253.2:n.327C>T | ||
| NM_006119.5:c.293G>A | NP_006110.1:p.Arg98Gln | |
| NM_033163.4:c.380G>A | NP_149353.1:p.Arg127Gln | |
| NM_033164.4:c.347G>A | NP_149354.1:p.Arg116Gln | |
| NM_033165.4:c.260G>A | NP_149355.1:p.Arg87Gln | |
| NM_001206389.2:c.68G>A | NP_001193318.1:p.Arg23Gln | |
| NM_006119.6:c.293G>A | NP_006110.1:p.Arg98Gln | |
| NM_033163.5:c.380G>A MANE Select | NP_149353.1:p.Arg127Gln | |
| NM_033165.5:c.260G>A | NP_149355.1:p.Arg87Gln |