Linked Data
dbSNP Id:
rs2146468398
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.43417364C>A , CM000683.2:g.43417364C>A | GRCh38 |
| NG_052009.1:g.14769G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270162.8:c.1976+179G>T MANE Select | ENSP00000270162.6:n.1976+179G>T | |
| ENST00000270162.6:c.1976+179G>T | ENSP00000270162.6:n.1976+179G>T | |
| NM_173354.3:c.1976+179G>T | NP_775490.2:n.1976+179G>T | |
| XM_011529474.1:c.1829+179G>T | XP_011527776.1:n.1829+179G>T | |
| NM_173354.4:c.1976+179G>T | NP_775490.2:n.1976+179G>T | |
| XM_011529474.2:c.1829+179G>T | XP_011527776.1:n.1829+179G>T | |
| NM_173354.5:c.1976+179G>T MANE Select | NP_775490.2:n.1976+179G>T |