Linked Data
ClinVar Variation Id:
627327
ClinVar RCV Id:
RCV003495184
dbSNP Id:
rs199469474
gnomAD v2:
2-128180973-G-A
gnomAD v4:
2-127423397-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127423397G>A , CM000664.2:g.127423397G>A | GRCh38 |
| NC_000002.11:g.128180973G>A , CM000664.1:g.128180973G>A | GRCh37 |
| NC_000002.10:g.127897443G>A | NCBI36 |
| NG_016323.1:g.9978G>A , LRG_599:g.9978G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000234071.8:c.524G>A MANE Select | ENSP00000234071.4:p.Cys175Tyr | |
| ENST00000234071.7:c.524G>A | ENSP00000234071.3:p.Cys175Tyr | |
| ENST00000402125.2:c.109G>A | ||
| ENST00000409048.1:c.626G>A | ENSP00000386679.1:p.Cys209Tyr | |
| ENST00000442644.5:c.467G>A | ENSP00000411241.1:p.Cys156Tyr | |
| ENST00000464089.1:n.110G>A | ||
| NM_000312.3:c.524G>A , LRG_599t1:c.524G>A | NP_000303.1:p.Cys175Tyr | |
| XM_005263715.3:c.707G>A | XP_005263772.1:p.Cys236Tyr | |
| XM_005263716.3:c.689G>A | XP_005263773.1:p.Cys230Tyr | |
| XM_005263717.3:c.587G>A | XP_005263774.1:p.Cys196Tyr | |
| XM_005263717.4:c.587G>A | XP_005263774.1:p.Cys196Tyr | |
| XM_017004505.1:c.767G>A | XP_016859994.1:p.Cys256Tyr | |
| XM_024453002.1:c.869G>A | XP_024308770.1:p.Cys290Tyr | |
| XM_024453003.1:c.809G>A | XP_024308771.1:p.Cys270Tyr | |
| XM_024453004.1:c.707G>A | XP_024308772.1:p.Cys236Tyr | |
| XM_024453005.1:c.689G>A | XP_024308773.1:p.Cys230Tyr | |
| XM_024453006.1:c.626G>A | XP_024308774.1:p.Cys209Tyr | |
| NM_000312.4:c.524G>A MANE Select | NP_000303.1:p.Cys175Tyr | |
| NM_001375602.1:c.707G>A | NP_001362531.1:p.Cys236Tyr | |
| NM_001375603.1:c.689G>A | NP_001362532.1:p.Cys230Tyr | |
| NM_001375604.1:c.587G>A | NP_001362533.1:p.Cys196Tyr | |
| NM_001375605.1:c.626G>A | NP_001362534.1:p.Cys209Tyr | |
| NM_001375606.1:c.692G>A | NP_001362535.1:p.Cys231Tyr | |
| NM_001375607.1:c.710G>A | NP_001362536.1:p.Cys237Tyr | |
| NM_001375608.1:c.467G>A | NP_001362537.1:p.Cys156Tyr | |
| NM_001375609.1:c.500G>A | NP_001362538.1:p.Cys167Tyr | |
| NM_001375610.1:c.518G>A | NP_001362539.1:p.Cys173Tyr | |
| NM_001375611.1:c.524G>A | NP_001362540.1:p.Cys175Tyr | |
| NM_001375613.1:c.524G>A | NP_001362542.1:p.Cys175Tyr |