Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6224710C>G , CM000668.2:g.6224710C>G | GRCh38 |
| NC_000006.11:g.6224943C>G , CM000668.1:g.6224943C>G | GRCh37 |
| NC_000006.10:g.6169942C>G | NCBI36 |
| NG_008107.1:g.100982G>C , LRG_549:g.100982G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264870.8:c.949G>C MANE Select | ENSP00000264870.3:p.Val317Leu | |
| ENST00000264870.7:c.949G>C | ENSP00000264870.3:p.Val317Leu | |
| ENST00000445223.1:c.99G>C | ||
| NM_000129.3:c.949G>C , LRG_549t1:c.949G>C | NP_000120.2:p.Val317Leu | |
| XM_006715010.2:c.949G>C | XP_006715073.1:p.Val317Leu | |
| XM_011514342.1:c.1111G>C | XP_011512644.1:p.Val371Leu | |
| NM_000129.4:c.949G>C MANE Select | NP_000120.2:p.Val317Leu |