Linked Data
dbSNP Id:
rs995369011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67940300C>G , CM000678.2:g.67940300C>G | GRCh38 |
| NC_000016.9:g.67974203C>G , CM000678.1:g.67974203C>G | GRCh37 |
| NC_000016.8:g.66531704C>G | NCBI36 |
| NG_009778.1:g.8813G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.927G>C MANE Select | ENSP00000264005.5:p.Leu309= | |
| ENST00000264005.9:c.927G>C | ENSP00000264005.5:p.Leu309= | |
| ENST00000570369.5:c.156-226G>C | ||
| ENST00000570980.1:c.711G>C | ENSP00000464651.1:p.Leu237= | |
| ENST00000573538.5:c.665G>C | ENSP00000463220.1:n.665G>C | |
| NM_000229.1:c.927G>C | NP_000220.1:p.Leu309= | |
| NM_000229.2:c.927G>C MANE Select | NP_000220.1:p.Leu309= |