Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10641151A>G , CM000679.2:g.10641151A>G | GRCh38 |
| NC_000017.10:g.10544468A>G , CM000679.1:g.10544468A>G | GRCh37 |
| NC_000017.9:g.10485193A>G | NCBI36 |
| NG_011537.1:g.21148T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000583535.6:c.2099T>C MANE Select | ENSP00000464317.1:p.Leu700Pro | |
| ENST00000583535.5:c.2099T>C | ENSP00000464317.1:p.Leu700Pro | |
| NM_002470.3:c.2099T>C | NP_002461.2:p.Leu700Pro | |
| XM_011523870.1:c.2099T>C | XP_011522172.1:p.Leu700Pro | |
| XM_011523871.1:c.2099T>C | XP_011522173.1:p.Leu700Pro | |
| XM_011523872.1:c.2099T>C | XP_011522174.1:p.Leu700Pro | |
| XM_011523870.3:c.2099T>C | XP_011522172.1:p.Leu700Pro | |
| XM_011523871.2:c.2099T>C | XP_011522173.1:p.Leu700Pro | |
| NM_002470.4:c.2099T>C MANE Select | NP_002461.2:p.Leu700Pro |