Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154749768T>C , CM000666.2:g.154749768T>C | GRCh38 |
| NC_000004.11:g.155670920T>C , CM000666.1:g.155670920T>C | GRCh37 |
| NC_000004.10:g.155890370T>C | NCBI36 |
| NG_009110.1:g.10758T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004744.5:c.*632T>C MANE Select | NP_004735.2:n.*632T>C |
| ENST00000336356.4:c.*632T>C MANE Select | ENSP00000337224.3:n.*632T>C |
| NM_001301645.1:c.*632T>C | NP_001288574.1:n.*632T>C |
| NM_001301645.2:c.*632T>C | NP_001288574.1:n.*632T>C |
| NM_004744.4:c.*632T>C | NP_004735.2:n.*632T>C |
| ENST00000336356.3:c.*632T>C | ENSP00000337224.3:n.*632T>C |
| ENST00000507827.5:c.*632T>C | ENSP00000426761.1:n.*632T>C |
| ENST00000510733.1:n.1652T>C | |
| XM_006714412.2:c.*632T>C | XP_006714475.1:n.*632T>C |
| XR_938793.1:n.1861T>C |