Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.120665095G>C , CM000669.2:g.120665095G>C | GRCh38 |
| NC_000007.13:g.120305149G>C , CM000669.1:g.120305149G>C | GRCh37 |
| NC_000007.12:g.120092385G>C | NCBI36 |
| NG_034230.1:g.396428G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012281.3:c.1116-67808G>C MANE Select | NP_036413.1:n.1116-67808G>C |
| ENST00000331113.9:c.1116-67808G>C MANE Select | ENSP00000333496.4:n.1116-67808G>C |
| NM_012281.2:c.1116-67808G>C | NP_036413.1:n.1116-67808G>C |
| ENST00000331113.8:c.1116-67808G>C | ENSP00000333496.4:n.1116-67808G>C |