Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102838056G>T , CM000673.2:g.102838056G>T | GRCh38 |
| NC_000011.9:g.102708787G>T , CM000673.1:g.102708787G>T | GRCh37 |
| NC_000011.8:g.102213997G>T | NCBI36 |
| NG_012100.1:g.10556C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002422.5:c.1229+495C>A MANE Select | NP_002413.1:n.1229+495C>A |
| ENST00000299855.10:c.1229+495C>A MANE Select | ENSP00000299855.5:n.1229+495C>A |
| NM_002422.3:c.1229+495C>A | NP_002413.1:n.1229+495C>A |
| NM_002422.4:c.1229+495C>A | NP_002413.1:n.1229+495C>A |
| ENST00000299855.9:c.1229+495C>A | ENSP00000299855.5:n.1229+495C>A |
| ENST00000434103.1:c.160+495C>A |