Linked Data
dbSNP Id:
rs939693564
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142957971A>G , CM000669.2:g.142957971A>G | GRCh38 |
| NC_000007.13:g.142655058A>G , CM000669.1:g.142655058A>G | GRCh37 |
| NC_000007.12:g.142365180A>G | NCBI36 |
| NG_007492.1:g.9446T>C | |
| NG_007492.2:g.9446T>C | |
| NG_007492.3:g.9446T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355265.7:c.528T>C MANE Select | ENSP00000347409.2:p.Leu176= | |
| ENST00000467543.6:c.*380T>C | ENSP00000420011.2:n.*380T>C | |
| ENST00000355265.6:c.528T>C | ENSP00000347409.2:p.Leu176= | |
| ENST00000467543.5:c.471T>C | ENSP00000420011.1:p.Leu157= | |
| ENST00000476829.5:c.525+333T>C | ENSP00000419889.1:n.525+333T>C | |
| ENST00000479768.6:n.646T>C | ||
| ENST00000494148.1:n.127T>C | ||
| NM_000420.2:c.528T>C | NP_000411.1:p.Leu176= | |
| XM_005249993.2:c.564T>C | XP_005250050.1:p.Leu188= | |
| NM_000420.3:c.528T>C MANE Select | NP_000411.1:p.Leu176= |