Linked Data
dbSNP Id:
rs753298537
ExAC:
9:34517371 A / G
gnomAD v2:
9-34517371-A-G
gnomAD v3:
9-34517373-A-G
gnomAD v4:
9-34517373-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34517373A>G , CM000671.2:g.34517373A>G | GRCh38 |
| NC_000009.11:g.34517371A>G , CM000671.1:g.34517371A>G | GRCh37 |
| NC_000009.10:g.34507371A>G | NCBI36 |
| NG_008127.1:g.63561A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242317.9:c.1907A>G MANE Select | ENSP00000242317.4:p.Gln636Arg | |
| ENST00000242317.8:c.1907A>G | ENSP00000242317.4:p.Gln636Arg | |
| ENST00000442556.1:c.329+2634A>G | ||
| ENST00000470169.5:c.695A>G | ||
| ENST00000485580.1:n.483A>G | ||
| ENST00000614641.4:c.1919A>G | ENSP00000480538.1:p.Gln640Arg | |
| NM_001281428.1:c.1919A>G | NP_001268357.1:p.Gln640Arg | |
| NM_012144.3:c.1907A>G | NP_036276.1:p.Gln636Arg | |
| XM_006716758.2:c.1376A>G | XP_006716821.1:p.Gln459Arg | |
| XM_011517848.1:c.1661A>G | XP_011516150.1:p.Gln554Arg | |
| XM_006716758.3:c.1376A>G | XP_006716821.1:p.Gln459Arg | |
| XM_011517848.2:c.1661A>G | XP_011516150.1:p.Gln554Arg | |
| XM_017014625.2:c.1649A>G | XP_016870114.1:p.Gln550Arg | |
| XR_002956774.1:n.2010A>G | ||
| NM_012144.4:c.1907A>G MANE Select | NP_036276.1:p.Gln636Arg | |
| NM_001281428.2:c.1919A>G | NP_001268357.1:p.Gln640Arg |