Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12790489T>C , CM000686.2:g.12790489T>C | GRCh38 |
| NC_000024.9:g.14902422T>C , CM000686.1:g.14902422T>C | GRCh37 |
| NC_000024.8:g.13411816T>C | NCBI36 |
| NG_008311.1:g.94263T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651177.1:c.3644T>C | ENSP00000498372.1:p.Leu1215Pro | |
| ENST00000338981.7:c.3644T>C MANE Select | ENSP00000342812.3:p.Leu1215Pro | |
| ENST00000426564.6:n.3656T>C | ||
| NM_004654.3:c.3644T>C | NP_004645.2:p.Leu1215Pro | |
| XM_011531469.1:c.3644T>C | XP_011529771.1:p.Leu1215Pro | |
| XM_011531470.1:c.3410T>C | XP_011529772.1:p.Leu1137Pro | |
| XM_017030078.2:c.3659T>C | XP_016885567.1:p.Leu1220Pro | |
| NM_004654.4:c.3644T>C MANE Select | NP_004645.2:p.Leu1215Pro |