Linked Data
dbSNP Id:
rs1133135
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38381346T>A , CM000685.2:g.38381346T>A | GRCh38 |
| NC_000023.10:g.38240599T>A , CM000685.1:g.38240599T>A | GRCh37 |
| NC_000023.9:g.38125543T>A | NCBI36 |
| NG_008471.1:g.33864T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000039007.5:c.303T>A MANE Select | ENSP00000039007.4:p.Phe101Leu | |
| ENST00000643344.1:c.*53T>A | ENSP00000496606.1:n.*53T>A | |
| ENST00000039007.4:c.303T>A | ENSP00000039007.4:p.Phe101Leu | |
| ENST00000465127.1:c.172-284775T>A | ENSP00000417050.1:n.172-284775T>A | |
| ENST00000488812.1:n.354-14T>A | ||
| NM_000531.5:c.303T>A | NP_000522.3:p.Phe101Leu | |
| XM_017029556.1:c.303T>A | XP_016885045.1:p.Phe101Leu | |
| NM_000531.6:c.303T>A MANE Select | NP_000522.3:p.Phe101Leu |