Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160076920T>C , CM000668.2:g.160076920T>C | GRCh38 |
| NC_000006.11:g.160497952T>C , CM000668.1:g.160497952T>C | GRCh37 |
| NC_000006.10:g.160417942T>C | NCBI36 |
| NG_011785.3:g.112822T>C | |
| NG_011785.4:g.112822T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356956.6:c.5316+924T>C MANE Select | ENSP00000349437.1:n.5316+924T>C | |
| ENST00000650503.1:n.1926+924T>C | ||
| ENST00000676781.1:c.*3424+924T>C | ENSP00000504419.1:n.*3424+924T>C | |
| ENST00000677704.1:c.*1187+924T>C | ENSP00000503314.1:n.*1187+924T>C | |
| ENST00000356956.5:c.5316+924T>C | ENSP00000349437.1:n.5316+924T>C | |
| NM_000876.2:c.5316+924T>C | NP_000867.2:n.5316+924T>C | |
| NM_000876.3:c.5316+924T>C | NP_000867.2:n.5316+924T>C | |
| NM_000876.4:c.5316+924T>C MANE Select | NP_000867.3:n.5316+924T>C |