Linked Data
dbSNP Id:
rs369773741
ExAC:
2:71351528 T / C
gnomAD v2:
2-71351528-T-C
gnomAD v3:
2-71124398-T-C
gnomAD v4:
2-71124398-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71124398T>C , CM000664.2:g.71124398T>C | GRCh38 |
| NC_000002.11:g.71351528T>C , CM000664.1:g.71351528T>C | GRCh37 |
| NC_000002.10:g.71205036T>C | NCBI36 |
| NG_008977.1:g.10867A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244217.6:c.186A>G MANE Select | ENSP00000244217.5:p.Ala62= | |
| ENST00000244217.5:c.186A>G | ENSP00000244217.5:p.Ala62= | |
| ENST00000413592.5:c.54A>G | ENSP00000391140.1:p.Ala18= | |
| ENST00000486135.1:c.-100A>G | ENSP00000441569.1:n.-100A>G | |
| ENST00000494660.6:c.-100A>G | ENSP00000437361.1:n.-100A>G | |
| NM_032601.3:c.186A>G | NP_115990.3:p.Ala62= | |
| XM_005264613.2:c.186A>G | XP_005264670.1:p.Ala62= | |
| XR_939729.1:n.255A>G | ||
| XR_939729.2:n.255A>G | ||
| NM_032601.4:c.186A>G MANE Select | NP_115990.3:p.Ala62= |