Linked Data
dbSNP Id:
rs572999533
ExAC:
9:34517318 G / C
gnomAD v2:
9-34517318-G-C
gnomAD v3:
9-34517320-G-C
gnomAD v4:
9-34517320-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34517320G>C , CM000671.2:g.34517320G>C | GRCh38 |
| NC_000009.11:g.34517318G>C , CM000671.1:g.34517318G>C | GRCh37 |
| NC_000009.10:g.34507318G>C | NCBI36 |
| NG_008127.1:g.63508G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242317.9:c.1854G>C MANE Select | ENSP00000242317.4:p.Glu618Asp | |
| ENST00000242317.8:c.1854G>C | ENSP00000242317.4:p.Glu618Asp | |
| ENST00000442556.1:c.329+2581G>C | ||
| ENST00000470169.5:c.642G>C | ||
| ENST00000485580.1:n.430G>C | ||
| ENST00000614641.4:c.1866G>C | ENSP00000480538.1:p.Glu622Asp | |
| NM_001281428.1:c.1866G>C | NP_001268357.1:p.Glu622Asp | |
| NM_012144.3:c.1854G>C | NP_036276.1:p.Glu618Asp | |
| XM_006716758.2:c.1323G>C | XP_006716821.1:p.Glu441Asp | |
| XM_011517848.1:c.1608G>C | XP_011516150.1:p.Glu536Asp | |
| XM_006716758.3:c.1323G>C | XP_006716821.1:p.Glu441Asp | |
| XM_011517848.2:c.1608G>C | XP_011516150.1:p.Glu536Asp | |
| XM_017014625.2:c.1596G>C | XP_016870114.1:p.Glu532Asp | |
| XR_002956774.1:n.1957G>C | ||
| NM_012144.4:c.1854G>C MANE Select | NP_036276.1:p.Glu618Asp | |
| NM_001281428.2:c.1866G>C | NP_001268357.1:p.Glu622Asp |