Linked Data
dbSNP Id:
rs772383858
ExAC:
13:113772753 G / A
gnomAD v2:
13-113772753-G-A
gnomAD v3:
13-113118439-G-A
gnomAD v4:
13-113118439-G-A
COSMIC:
COSM4878971
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113118439G>A , CM000675.2:g.113118439G>A | GRCh38 |
| NC_000013.10:g.113772753G>A , CM000675.1:g.113772753G>A | GRCh37 |
| NC_000013.9:g.112820754G>A | NCBI36 |
| NG_009258.1:g.641G>A , LRG_548:g.641G>A | |
| NG_009262.1:g.17649G>A , LRG_554:g.17649G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346342.8:c.766G>A MANE Select | ENSP00000329546.4:p.Gly256Arg | |
| ENST00000346342.7:c.766G>A | ENSP00000329546.3:p.Gly256Arg | |
| ENST00000375581.3:c.832G>A | ENSP00000364731.3:p.Gly278Arg | |
| ENST00000541084.5:c.580G>A | ENSP00000442051.2:p.Gly194Arg | |
| NM_000131.4:c.832G>A , LRG_554t1:c.832G>A | NP_000122.1:p.Gly278Arg | |
| NM_001267554.1:c.580G>A | NP_001254483.1:p.Gly194Arg | |
| NM_019616.3:c.766G>A , LRG_554t2:c.766G>A | NP_062562.1:p.Gly256Arg | |
| NR_051961.1:n.853G>A | ||
| XM_006719963.2:c.625G>A | XP_006720026.1:p.Gly209Arg | |
| XM_011537474.1:c.874G>A | XP_011535776.1:p.Gly292Arg | |
| XM_011537475.1:c.688G>A | XP_011535777.1:p.Gly230Arg | |
| XM_011537476.1:c.526G>A | XP_011535778.1:p.Gly176Arg | |
| XM_011537477.1:c.835G>A | XP_011535779.1:p.Gly279Arg | |
| XM_006719963.3:c.670G>A | XP_006720026.2:p.Gly224Arg | |
| XM_011537474.2:c.919G>A | XP_011535776.2:p.Gly307Arg | |
| XM_011537475.2:c.733G>A | XP_011535777.2:p.Gly245Arg | |
| XM_011537476.2:c.526G>A | XP_011535778.1:p.Gly176Arg | |
| NM_019616.4:c.766G>A MANE Select | NP_062562.1:p.Gly256Arg | |
| NR_051961.2:n.850G>A | ||
| NM_001267554.2:c.580G>A | NP_001254483.1:p.Gly194Arg |