Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.37368382A>C , CM000664.2:g.37368382A>C | GRCh38 |
| NC_000002.11:g.37595525A>C , CM000664.1:g.37595525A>C | GRCh37 |
| NC_000002.10:g.37449029A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012413.4:c.723+974A>C MANE Select | NP_036545.1:n.723+974A>C |
| ENST00000338415.8:c.723+974A>C MANE Select | ENSP00000344829.3:n.723+974A>C |
| NM_012413.3:c.723+974A>C | NP_036545.1:n.723+974A>C |
| ENST00000338415.7:c.723+974A>C | ENSP00000344829.3:n.723+974A>C |
| ENST00000404976.5:c.576+974A>C | ENSP00000385391.1:n.576+974A>C |
| ENST00000444022.1:c.-260A>C | ENSP00000389227.1:n.-260A>C |
| ENST00000469098.1:n.286+974A>C | |
| ENST00000480050.1:n.633+974A>C |