Linked Data
ClinVar Variation Id:
2948944
ClinVar RCV Id:
RCV003801670
dbSNP Id:
rs772096617
ExAC:
2:202074272 A / G
gnomAD v2:
2-202074272-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201209549A>G , CM000664.2:g.201209549A>G | GRCh38 |
| NC_000002.11:g.202074272A>G , CM000664.1:g.202074272A>G | GRCh37 |
| NC_000002.10:g.201782517A>G | NCBI36 |
| NG_007265.1:g.31418A>G , LRG_33:g.31418A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313728.12:c.1201A>G | ENSP00000314599.7:p.Lys401Glu | |
| ENST00000346817.10:c.1273A>G | ENSP00000237865.7:p.Lys425Glu | |
| ENST00000438843.6:c.*859A>G | ENSP00000401914.1:n.*859A>G | |
| ENST00000492363.6:c.*488A>G | ENSP00000512459.1:n.*488A>G | |
| ENST00000696199.1:c.721+5783A>G | ENSP00000512481.1:n.721+5783A>G | |
| ENST00000286186.11:c.1402A>G MANE Select | ENSP00000286186.6:p.Lys468Glu | |
| ENST00000272879.9:c.1402A>G | ENSP00000272879.5:p.Lys468Glu | |
| ENST00000286186.10:c.1402A>G | ENSP00000286186.6:p.Lys468Glu | |
| ENST00000313728.11:c.1201A>G | ENSP00000314599.7:p.Lys401Glu | |
| ENST00000346817.9:c.1273A>G | ENSP00000237865.7:p.Lys425Glu | |
| ENST00000360132.7:c.*488A>G | ENSP00000353250.3:n.*488A>G | |
| ENST00000448480.1:c.1273A>G | ENSP00000396835.1:p.Lys425Glu | |
| ENST00000492363.5:n.1310A>G | ||
| NM_001206524.1:c.1201A>G | NP_001193453.1:p.Lys401Glu | |
| NM_001206542.1:c.1273A>G | NP_001193471.1:p.Lys425Glu | |
| NM_001230.4:c.1273A>G | NP_001221.2:p.Lys425Glu | |
| NM_032974.4:c.1402A>G | NP_116756.2:p.Lys468Glu | |
| NM_032976.3:c.*488A>G | NP_116758.1:n.*488A>G | |
| NM_032977.3:c.1402A>G , LRG_33t1:c.1402A>G | NP_116759.2:p.Lys468Glu | |
| XM_005246907.2:c.1399A>G | XP_005246964.1:p.Lys467Glu | |
| XM_006712796.2:c.652A>G | XP_006712859.1:p.Lys218Glu | |
| XM_006712796.3:c.652A>G | XP_006712859.1:p.Lys218Glu | |
| NM_001206524.2:c.1201A>G | NP_001193453.1:p.Lys401Glu | |
| NM_001206542.2:c.1273A>G | NP_001193471.1:p.Lys425Glu | |
| NM_001230.5:c.1273A>G | NP_001221.2:p.Lys425Glu | |
| NM_032974.5:c.1402A>G | NP_116756.2:p.Lys468Glu | |
| NM_032977.4:c.1402A>G MANE Select | NP_116759.2:p.Lys468Glu | |
| NM_032976.4:c.*488A>G | NP_116758.1:n.*488A>G |