Linked Data
dbSNP Id:
rs376258321
ExAC:
19:16008275 C / T
gnomAD v2:
19-16008275-C-T
gnomAD v3:
19-15897465-C-T
gnomAD v4:
19-15897465-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15897465C>T , CM000681.2:g.15897465C>T | GRCh38 |
| NC_000019.9:g.16008275C>T , CM000681.1:g.16008275C>T | GRCh37 |
| NC_000019.8:g.15869275C>T | NCBI36 |
| NG_007971.2:g.5610G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221700.11:c.147G>A MANE Select | ENSP00000221700.3:p.Arg49= | |
| ENST00000011989.11:c.147G>A | ENSP00000011989.8:p.Arg49= | |
| ENST00000221700.10:c.147G>A | ENSP00000221700.3:p.Arg49= | |
| ENST00000392846.7:n.49+561G>A | ||
| ENST00000586927.2:c.147G>A | ENSP00000465514.1:p.Arg49= | |
| ENST00000587671.2:c.147G>A | ENSP00000467443.2:p.Arg49= | |
| ENST00000608168.1:n.200G>A | ||
| NM_001082.4:c.147G>A | NP_001073.3:p.Arg49= | |
| NM_001082.5:c.147G>A MANE Select | NP_001073.3:p.Arg49= |