Linked Data
dbSNP Id:
rs765804042
ExAC:
9:34517370 C / A
gnomAD v2:
9-34517370-C-A
gnomAD v3:
9-34517372-C-A
gnomAD v4:
9-34517372-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34517372C>A , CM000671.2:g.34517372C>A | GRCh38 |
| NC_000009.11:g.34517370C>A , CM000671.1:g.34517370C>A | GRCh37 |
| NC_000009.10:g.34507370C>A | NCBI36 |
| NG_008127.1:g.63560C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242317.9:c.1906C>A MANE Select | ENSP00000242317.4:p.Gln636Lys | |
| ENST00000242317.8:c.1906C>A | ENSP00000242317.4:p.Gln636Lys | |
| ENST00000442556.1:c.329+2633C>A | ||
| ENST00000470169.5:c.694C>A | ||
| ENST00000485580.1:n.482C>A | ||
| ENST00000614641.4:c.1918C>A | ENSP00000480538.1:p.Gln640Lys | |
| NM_001281428.1:c.1918C>A | NP_001268357.1:p.Gln640Lys | |
| NM_012144.3:c.1906C>A | NP_036276.1:p.Gln636Lys | |
| XM_006716758.2:c.1375C>A | XP_006716821.1:p.Gln459Lys | |
| XM_011517848.1:c.1660C>A | XP_011516150.1:p.Gln554Lys | |
| XM_006716758.3:c.1375C>A | XP_006716821.1:p.Gln459Lys | |
| XM_011517848.2:c.1660C>A | XP_011516150.1:p.Gln554Lys | |
| XM_017014625.2:c.1648C>A | XP_016870114.1:p.Gln550Lys | |
| XR_002956774.1:n.2009C>A | ||
| NM_012144.4:c.1906C>A MANE Select | NP_036276.1:p.Gln636Lys | |
| NM_001281428.2:c.1918C>A | NP_001268357.1:p.Gln640Lys |