Linked Data
dbSNP Id:
rs773617307
ExAC:
X:99662788 T / C
gnomAD v2:
X-99662788-T-C
gnomAD v4:
X-100407790-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.100407790T>C , CM000685.2:g.100407790T>C | GRCh38 |
| NC_000023.10:g.99662788T>C , CM000685.1:g.99662788T>C | GRCh37 |
| NC_000023.9:g.99549444T>C | NCBI36 |
| NG_021319.1:g.7484A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255531.8:c.808A>G | ENSP00000255531.7:p.Asn270Asp | |
| ENST00000373034.8:c.808A>G MANE Select | ENSP00000362125.4:p.Asn270Asp | |
| ENST00000420881.6:c.808A>G | ENSP00000400327.2:p.Asn270Asp | |
| NM_001105243.1:c.808A>G | NP_001098713.1:p.Asn270Asp | |
| NM_001184880.1:c.808A>G | NP_001171809.1:p.Asn270Asp | |
| NM_020766.2:c.808A>G | NP_065817.2:p.Asn270Asp | |
| XM_011530997.1:c.808A>G | XP_011529299.1:p.Asn270Asp | |
| XM_011530997.2:c.808A>G | XP_011529299.1:p.Asn270Asp | |
| NM_001105243.2:c.808A>G | NP_001098713.1:p.Asn270Asp | |
| NM_001184880.2:c.808A>G MANE Select | NP_001171809.1:p.Asn270Asp | |
| NM_020766.3:c.808A>G | NP_065817.2:p.Asn270Asp |