Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149001676G>T , CM000667.2:g.149001676G>T | GRCh38 |
| NC_000005.9:g.148381239G>T , CM000667.1:g.148381239G>T | GRCh37 |
| NC_000005.8:g.148361432G>T | NCBI36 |
| NG_007947.2:g.66499C>A , LRG_269:g.66499C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024577.4:c.*3035C>A MANE Select | NP_078853.2:n.*3035C>A |
| ENST00000515425.6:c.*3035C>A MANE Select | ENSP00000423660.1:n.*3035C>A |
| NM_024577.3:c.*3035C>A , LRG_269t1:c.*3035C>A | NP_078853.2:n.*3035C>A |
| ENST00000323829.9:c.*6290C>A | ENSP00000313025.5:n.*6290C>A |
| ENST00000504690.5:c.*12+2050C>A | ENSP00000425627.1:n.*12+2050C>A |
| ENST00000510350.1:n.231+5205C>A | |
| ENST00000643113.1:c.1677C>A | |
| ENST00000675793.1:c.*7959C>A | ENSP00000502039.1:n.*7959C>A |