Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136046598T>C , CM000667.2:g.136046598T>C | GRCh38 |
| NC_000005.9:g.135382287T>C , CM000667.1:g.135382287T>C | GRCh37 |
| NC_000005.8:g.135410186T>C | NCBI36 |
| NG_012646.1:g.22704T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.459+103T>C MANE Select | ENSP00000416330.2:n.459+103T>C | |
| ENST00000442011.6:c.459+103T>C | ENSP00000416330.2:n.459+103T>C | |
| ENST00000506699.5:n.627T>C | ||
| ENST00000507018.5:c.437+42T>C | ||
| ENST00000515433.1:n.854T>C | ||
| NM_000358.2:c.459+103T>C | NP_000349.1:n.459+103T>C | |
| NM_000358.3:c.459+103T>C MANE Select | NP_000349.1:n.459+103T>C |