Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.134475279T>C , CM000685.2:g.134475279T>C | GRCh38 |
| NC_000023.10:g.133609309T>C , CM000685.1:g.133609309T>C | GRCh37 |
| NC_000023.9:g.133436975T>C | NCBI36 |
| NG_012329.1:g.20135T>C | |
| NG_012329.2:g.20135T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000194.3:c.233T>C MANE Select | NP_000185.1:p.Leu78Pro |
| ENST00000298556.8:c.233T>C MANE Select | ENSP00000298556.7:p.Leu78Pro |
| NM_000194.2:c.233T>C | NP_000185.1:p.Leu78Pro |
| ENST00000298556.7:c.233T>C | ENSP00000298556.7:p.Leu78Pro |
| ENST00000462974.5:n.391T>C | |
| ENST00000475720.1:n.191T>C | |
| XM_011531328.1:c.251T>C | XP_011529630.1:p.Leu84Pro |