Linked Data
dbSNP Id:
rs2112122687
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74685402G>T , CM000667.2:g.74685402G>T | GRCh38 |
| NC_000005.9:g.73981227G>T , CM000667.1:g.73981227G>T | GRCh37 |
| NC_000005.8:g.74016983G>T | NCBI36 |
| NG_009770.1:g.5259G>T | |
| NG_009770.2:g.50380G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261416.12:c.142G>T MANE Select | ENSP00000261416.7:p.Val48Phe | |
| ENST00000261416.11:c.142G>T | ENSP00000261416.7:p.Val48Phe | |
| ENST00000511181.5:c.-376-3926G>T | ENSP00000426285.1:n.-376-3926G>T | |
| ENST00000513079.5:n.207G>T | ||
| ENST00000515528.1:n.197G>T | ||
| NM_000521.3:c.142G>T | NP_000512.1:p.Val48Phe | |
| NM_001292004.1:c.-376-3926G>T | NP_001278933.1:n.-376-3926G>T | |
| NM_000521.4:c.142G>T MANE Select | NP_000512.2:p.Val48Phe | |
| NM_001292004.2:c.-376-3926G>T | NP_001278933.1:n.-376-3926G>T |