Linked Data
ClinVar Variation Id:
137759
dbSNP Id:
rs62088470
ExAC:
17:73520359 C / G
gnomAD v2:
17-73520359-C-G
gnomAD v3:
17-75524278-C-G
gnomAD v4:
17-75524278-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75524278C>G , CM000679.2:g.75524278C>G | GRCh38 |
| NC_000017.10:g.73520359C>G , CM000679.1:g.73520359C>G | GRCh37 |
| NC_000017.9:g.71031954C>G | NCBI36 |
| NG_013041.1:g.12751C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333213.11:c.1447C>G MANE Select | ENSP00000327487.6:p.Pro483Ala | |
| ENST00000434205.8:c.1144C>G | ENSP00000406559.4:p.Pro382Ala | |
| ENST00000545228.3:c.1635C>G | ENSP00000438169.3:p.Ser545= | |
| ENST00000577197.2:n.645C>G | ||
| ENST00000579449.2:n.2187C>G | ||
| ENST00000580013.6:n.2591C>G | ||
| ENST00000679370.1:n.2969C>G | ||
| ENST00000679429.1:c.*905C>G | ENSP00000505403.1:n.*905C>G | |
| ENST00000679443.1:n.1516C>G | ||
| ENST00000679782.1:c.*146C>G | ENSP00000505995.1:n.*146C>G | |
| ENST00000679919.1:n.1718C>G | ||
| ENST00000679928.1:c.*1999C>G | ENSP00000506071.1:n.*1999C>G | |
| ENST00000680528.1:n.2413C>G | ||
| ENST00000680999.1:c.1660C>G | ENSP00000504984.1:p.Pro554Ala | |
| ENST00000681282.1:c.*1634C>G | ENSP00000506339.1:n.*1634C>G | |
| ENST00000333213.10:c.1447C>G | ENSP00000327487.6:p.Pro483Ala | |
| ENST00000545228.2:c.724C>G | ||
| ENST00000577197.1:n.195C>G | ||
| ENST00000579449.1:n.644C>G | ||
| NM_207346.2:c.1447C>G | NP_997229.2:p.Pro483Ala | |
| XM_005257229.2:c.1635C>G | XP_005257286.1:p.Ser545= | |
| XM_006721821.2:c.1332C>G | XP_006721884.1:p.Ser444= | |
| XM_011524616.1:c.1518C>G | XP_011522918.1:p.Ser506= | |
| XM_011524617.1:c.*29C>G | XP_011522919.1:n.*29C>G | |
| XM_011524618.1:c.1330C>G | XP_011522920.1:p.Pro444Ala | |
| XR_243646.2:n.1679C>G | ||
| XM_005257229.4:c.1635C>G | XP_005257286.1:p.Ser545= | |
| XR_001753015.1:n.87+33G>C | ||
| XR_001753016.1:n.88+33G>C | ||
| XR_243646.4:n.1685C>G | ||
| NM_207346.3:c.1447C>G MANE Select | NP_997229.2:p.Pro483Ala |