Linked Data
ClinVar Variation Id:
2682747
ClinVar RCV Id:
RCV003481614
dbSNP Id:
rs1216244436
gnomAD v2:
2-128183752-T-A
gnomAD v4:
2-127426176-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127426176T>A , CM000664.2:g.127426176T>A | GRCh38 |
| NC_000002.11:g.128183752T>A , CM000664.1:g.128183752T>A | GRCh37 |
| NC_000002.10:g.127900222T>A | NCBI36 |
| NG_016323.1:g.12757T>A , LRG_599:g.12757T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234071.8:c.627T>A MANE Select | ENSP00000234071.4:p.Asp209Glu | |
| ENST00000234071.7:c.627T>A | ENSP00000234071.3:p.Asp209Glu | |
| ENST00000402125.2:c.121-2181T>A | ||
| ENST00000409048.1:c.729T>A | ENSP00000386679.1:p.Asp243Glu | |
| ENST00000464089.1:n.213T>A | ||
| NM_000312.3:c.627T>A , LRG_599t1:c.627T>A | NP_000303.1:p.Asp209Glu | |
| XM_005263715.3:c.810T>A | XP_005263772.1:p.Asp270Glu | |
| XM_005263716.3:c.792T>A | XP_005263773.1:p.Asp264Glu | |
| XM_005263717.3:c.690T>A | XP_005263774.1:p.Asp230Glu | |
| XM_005263717.4:c.690T>A | XP_005263774.1:p.Asp230Glu | |
| XM_017004505.1:c.870T>A | XP_016859994.1:p.Asp290Glu | |
| XM_024453002.1:c.972T>A | XP_024308770.1:p.Asp324Glu | |
| XM_024453003.1:c.912T>A | XP_024308771.1:p.Asp304Glu | |
| XM_024453004.1:c.810T>A | XP_024308772.1:p.Asp270Glu | |
| XM_024453005.1:c.792T>A | XP_024308773.1:p.Asp264Glu | |
| XM_024453006.1:c.729T>A | XP_024308774.1:p.Asp243Glu | |
| XR_923313.2:n.4409A>T | ||
| NM_000312.4:c.627T>A MANE Select | NP_000303.1:p.Asp209Glu | |
| NM_001375602.1:c.810T>A | NP_001362531.1:p.Asp270Glu | |
| NM_001375603.1:c.792T>A | NP_001362532.1:p.Asp264Glu | |
| NM_001375604.1:c.690T>A | NP_001362533.1:p.Asp230Glu | |
| NM_001375605.1:c.729T>A | NP_001362534.1:p.Asp243Glu | |
| NM_001375606.1:c.795T>A | NP_001362535.1:p.Asp265Glu | |
| NM_001375607.1:c.813T>A | NP_001362536.1:p.Asp271Glu | |
| NM_001375608.1:c.570T>A | NP_001362537.1:p.Asp190Glu | |
| NM_001375609.1:c.603T>A | NP_001362538.1:p.Asp201Glu | |
| NM_001375610.1:c.621T>A | NP_001362539.1:p.Asp207Glu | |
| NM_001375611.1:c.627T>A | NP_001362540.1:p.Asp209Glu | |
| NM_001375613.1:c.627T>A | NP_001362542.1:p.Asp209Glu |