Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35500046A>G , CM000668.2:g.35500046A>G | GRCh38 |
| NC_000006.11:g.35467823A>G , CM000668.1:g.35467823A>G | GRCh37 |
| NC_000006.10:g.35575801A>G | NCBI36 |
| NG_009077.1:g.17825T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229771.11:c.1430T>C MANE Select | ENSP00000229771.6:p.Leu477Pro | |
| ENST00000229771.10:c.1430T>C | ENSP00000229771.6:p.Leu477Pro | |
| ENST00000322263.8:c.1271T>C | ENSP00000319414.4:p.Leu424Pro | |
| ENST00000614066.4:c.1424T>C | ENSP00000477534.1:p.Leu475Pro | |
| NM_001289395.1:c.1271T>C | NP_001276324.1:p.Leu424Pro | |
| NM_003322.4:c.1430T>C | NP_003313.3:p.Leu477Pro | |
| NM_003322.5:c.1430T>C | NP_003313.3:p.Leu477Pro | |
| NM_003322.6:c.1430T>C MANE Select | NP_003313.3:p.Leu477Pro | |
| NM_001289395.2:c.1271T>C | NP_001276324.1:p.Leu424Pro |