Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149001677T>G , CM000667.2:g.149001677T>G | GRCh38 |
| NC_000005.9:g.148381240T>G , CM000667.1:g.148381240T>G | GRCh37 |
| NC_000005.8:g.148361433T>G | NCBI36 |
| NG_007947.2:g.66498A>C , LRG_269:g.66498A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024577.4:c.*3034A>C MANE Select | NP_078853.2:n.*3034A>C |
| ENST00000515425.6:c.*3034A>C MANE Select | ENSP00000423660.1:n.*3034A>C |
| NM_024577.3:c.*3034A>C , LRG_269t1:c.*3034A>C | NP_078853.2:n.*3034A>C |
| ENST00000323829.9:c.*6289A>C | ENSP00000313025.5:n.*6289A>C |
| ENST00000504690.5:c.*12+2049A>C | ENSP00000425627.1:n.*12+2049A>C |
| ENST00000510350.1:n.231+5204A>C | |
| ENST00000643113.1:c.1676A>C | |
| ENST00000675793.1:c.*7958A>C | ENSP00000502039.1:n.*7958A>C |