Linked Data
ClinVar Variation Id:
372357
dbSNP Id:
rs116920018
ExAC:
9:420579 A / G
gnomAD v2:
9-420579-A-G
gnomAD v3:
9-420579-A-G
gnomAD v4:
9-420579-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.420579A>G , CM000671.2:g.420579A>G | GRCh38 |
| NC_000009.11:g.420579A>G , CM000671.1:g.420579A>G | GRCh37 |
| NC_000009.10:g.410579A>G | NCBI36 |
| NG_017007.1:g.210715A>G , LRG_196:g.210715A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382329.2:c.3719A>G | ENSP00000371766.2:p.Tyr1240Cys | |
| ENST00000683406.1:n.540A>G | ||
| ENST00000685949.1:n.2807A>G | ||
| ENST00000432829.7:c.4019A>G MANE Select | ENSP00000394888.3:p.Tyr1340Cys | |
| ENST00000382329.1:c.2420A>G | ENSP00000371766.1:p.Tyr807Cys | |
| ENST00000432829.6:c.4019A>G | ENSP00000394888.3:p.Tyr1340Cys | |
| ENST00000453981.5:c.3815A>G | ENSP00000408464.2:p.Tyr1272Cys | |
| ENST00000469391.5:c.3719A>G | ENSP00000419438.1:p.Tyr1240Cys | |
| ENST00000493666.2:n.244A>G | ||
| ENST00000495184.5:n.5974A>G | ||
| NM_001190458.1:c.3719A>G | NP_001177387.1:p.Tyr1240Cys | |
| NM_001193536.1:c.3815A>G | NP_001180465.1:p.Tyr1272Cys | |
| NM_203447.3:c.4019A>G , LRG_196t1:c.4019A>G | NP_982272.2:p.Tyr1340Cys | |
| XM_011518045.1:c.3719A>G | XP_011516347.1:p.Tyr1240Cys | |
| XM_011518046.1:c.3881A>G | XP_011516348.1:p.Tyr1294Cys | |
| XM_011518047.1:c.3815A>G | XP_011516349.1:p.Tyr1272Cys | |
| XM_011518048.1:c.3815A>G | XP_011516350.1:p.Tyr1272Cys | |
| XM_011518049.1:c.2255A>G | XP_011516351.1:p.Tyr752Cys | |
| XM_011518045.3:c.3719A>G | XP_011516347.1:p.Tyr1240Cys | |
| XM_011518046.2:c.3881A>G | XP_011516348.1:p.Tyr1294Cys | |
| XM_011518047.3:c.3815A>G | XP_011516349.1:p.Tyr1272Cys | |
| XM_011518048.2:c.3815A>G | XP_011516350.1:p.Tyr1272Cys | |
| XM_011518049.2:c.2255A>G | XP_011516351.1:p.Tyr752Cys | |
| XM_017015173.1:c.3815A>G | XP_016870662.1:p.Tyr1272Cys | |
| XM_017015174.1:c.3881A>G | XP_016870663.1:p.Tyr1294Cys | |
| NM_001190458.2:c.3719A>G | NP_001177387.1:p.Tyr1240Cys | |
| NM_001193536.2:c.3815A>G | NP_001180465.1:p.Tyr1272Cys | |
| NM_203447.4:c.4019A>G MANE Select | NP_982272.2:p.Tyr1340Cys |