Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98541890C>G , CM000671.2:g.98541890C>G | GRCh38 |
| NC_000009.11:g.101304172C>G , CM000671.1:g.101304172C>G | GRCh37 |
| NC_000009.10:g.100343993C>G | NCBI36 |
| NG_016426.1:g.172308G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.613G>C MANE Select | ENSP00000259455.2:p.Val205Leu | |
| ENST00000637410.1:n.391G>C | ||
| ENST00000637717.1:c.229G>C | ENSP00000490789.1:p.Val77Leu | |
| ENST00000259455.3:c.613G>C | ENSP00000259455.2:p.Val205Leu | |
| ENST00000477471.1:n.400G>C | ||
| ENST00000634227.1:n.387G>C | ||
| NM_005458.7:c.613G>C | NP_005449.5:p.Val205Leu | |
| XM_017015331.2:c.319G>C | XP_016870820.1:p.Val107Leu | |
| NM_005458.8:c.613G>C MANE Select | NP_005449.5:p.Val205Leu |