Linked Data
ClinVar Variation Id:
331107
ClinVar RCV Id:
RCV000339693
dbSNP Id:
rs771116175
gnomAD v3:
2-127426215-C-G
gnomAD v4:
2-127426215-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.127426215C>G , CM000664.2:g.127426215C>G | GRCh38 |
| NC_000002.11:g.128183791C>G , CM000664.1:g.128183791C>G | GRCh37 |
| NC_000002.10:g.127900261C>G | NCBI36 |
| NG_016323.1:g.12796C>G , LRG_599:g.12796C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000234071.8:c.666C>G MANE Select | ENSP00000234071.4:p.Asp222Glu | |
| ENST00000234071.7:c.666C>G | ENSP00000234071.3:p.Asp222Glu | |
| ENST00000402125.2:c.121-2142C>G | ||
| ENST00000409048.1:c.768C>G | ENSP00000386679.1:p.Asp256Glu | |
| ENST00000464089.1:n.252C>G | ||
| NM_000312.3:c.666C>G , LRG_599t1:c.666C>G | NP_000303.1:p.Asp222Glu | |
| XM_005263715.3:c.849C>G | XP_005263772.1:p.Asp283Glu | |
| XM_005263716.3:c.831C>G | XP_005263773.1:p.Asp277Glu | |
| XM_005263717.3:c.729C>G | XP_005263774.1:p.Asp243Glu | |
| XM_005263717.4:c.729C>G | XP_005263774.1:p.Asp243Glu | |
| XM_017004505.1:c.909C>G | XP_016859994.1:p.Asp303Glu | |
| XM_024453002.1:c.1011C>G | XP_024308770.1:p.Asp337Glu | |
| XM_024453003.1:c.951C>G | XP_024308771.1:p.Asp317Glu | |
| XM_024453004.1:c.849C>G | XP_024308772.1:p.Asp283Glu | |
| XM_024453005.1:c.831C>G | XP_024308773.1:p.Asp277Glu | |
| XM_024453006.1:c.768C>G | XP_024308774.1:p.Asp256Glu | |
| XR_923313.2:n.4370G>C | ||
| NM_000312.4:c.666C>G MANE Select | NP_000303.1:p.Asp222Glu | |
| NM_001375602.1:c.849C>G | NP_001362531.1:p.Asp283Glu | |
| NM_001375603.1:c.831C>G | NP_001362532.1:p.Asp277Glu | |
| NM_001375604.1:c.729C>G | NP_001362533.1:p.Asp243Glu | |
| NM_001375605.1:c.768C>G | NP_001362534.1:p.Asp256Glu | |
| NM_001375606.1:c.834C>G | NP_001362535.1:p.Asp278Glu | |
| NM_001375607.1:c.852C>G | NP_001362536.1:p.Asp284Glu | |
| NM_001375608.1:c.609C>G | NP_001362537.1:p.Asp203Glu | |
| NM_001375609.1:c.642C>G | NP_001362538.1:p.Asp214Glu | |
| NM_001375610.1:c.660C>G | NP_001362539.1:p.Asp220Glu | |
| NM_001375611.1:c.666C>G | NP_001362540.1:p.Asp222Glu | |
| NM_001375613.1:c.666C>G | NP_001362542.1:p.Asp222Glu |