Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21748599T>C , CM000669.2:g.21748599T>C | GRCh38 |
| NC_000007.13:g.21788217T>C , CM000669.1:g.21788217T>C | GRCh37 |
| NC_000007.12:g.21754742T>C | NCBI36 |
| NG_012886.2:g.210385T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.8530T>C MANE Select | ENSP00000475939.1:p.Leu2844= | |
| ENST00000328843.10:c.8551T>C | ENSP00000330671.7:p.Leu2851= | |
| ENST00000409508.7:c.8530T>C | ENSP00000475939.1:p.Leu2844= | |
| ENST00000620169.4:c.8551T>C | ENSP00000481693.1:p.Leu2851= | |
| NM_001277115.1:c.8530T>C | NP_001264044.1:p.Leu2844= | |
| NM_001277115.2:c.8530T>C MANE Select | NP_001264044.1:p.Leu2844= |