Linked Data
dbSNP Id:
rs148954387
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.147828020A>T , CM000667.2:g.147828020A>T | GRCh38 |
| NC_000005.9:g.147207583A>T , CM000667.1:g.147207583A>T | GRCh37 |
| NC_000005.8:g.147187776A>T | NCBI36 |
| NG_008356.2:g.16212T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296695.10:c.194+2T>A MANE Select | ENSP00000296695.5:n.194+2T>A | |
| ENST00000296695.9:c.194+2T>A | ENSP00000296695.5:n.194+2T>A | |
| ENST00000505722.1:n.109+2T>A | ||
| ENST00000510027.2:c.196T>A | ENSP00000427376.1:p.Ter66Arg | |
| NM_003122.4:c.194+2T>A | NP_003113.2:n.194+2T>A | |
| NM_001354966.1:c.194+2T>A | NP_001341895.1:n.194+2T>A | |
| NM_001354966.2:c.194+2T>A | NP_001341895.1:n.194+2T>A | |
| NM_001379610.1:c.194+2T>A MANE Select | NP_001366539.1:n.194+2T>A | |
| NM_003122.5:c.194+2T>A | NP_003113.2:n.194+2T>A |