Linked Data
dbSNP Id:
rs879211715
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.137566990A>T , CM000685.2:g.137566990A>T | GRCh38 |
| NC_000023.10:g.136649149A>T , CM000685.1:g.136649149A>T | GRCh37 |
| NC_000023.9:g.136476815A>T | NCBI36 |
| NG_008115.1:g.5804A>T | |
| NG_008115.2:g.5864A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287538.10:c.299A>T MANE Select | ENSP00000287538.5:p.Gln100Leu | |
| ENST00000287538.9:c.299A>T | ENSP00000287538.5:p.Gln100Leu | |
| ENST00000370606.3:c.299A>T | ENSP00000359638.3:p.Gln100Leu | |
| NM_003413.3:c.299A>T | NP_003404.1:p.Gln100Leu | |
| NM_001330661.1:c.299A>T | NP_001317590.1:p.Gln100Leu | |
| NM_003413.4:c.299A>T MANE Select | NP_003404.1:p.Gln100Leu |