Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.154896333A>G , CM000667.2:g.154896333A>G | GRCh38 |
| NC_000005.9:g.154275893A>G , CM000667.1:g.154275893A>G | GRCh37 |
| NC_000005.8:g.154256086A>G | NCBI36 |
| NG_052854.1:g.46884T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285873.8:c.3356T>C MANE Select | ENSP00000285873.6:p.Leu1119Ser | |
| ENST00000285873.7:c.3356T>C | ENSP00000285873.6:p.Leu1119Ser | |
| NM_001252156.1:c.3353T>C | NP_001239085.1:p.Leu1118Ser | |
| NM_015465.4:c.3356T>C | NP_056280.2:p.Leu1119Ser | |
| NM_015465.5:c.3356T>C MANE Select | NP_056280.2:p.Leu1119Ser | |
| NM_001252156.2:c.3353T>C | NP_001239085.1:p.Leu1118Ser |