Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48379655G>C , CM000675.2:g.48379655G>C | GRCh38 |
| NC_000013.10:g.48953791G>C , CM000675.1:g.48953791G>C | GRCh37 |
| NC_000013.9:g.47851792G>C | NCBI36 |
| NG_009009.1:g.80909G>C , LRG_517:g.80909G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.1389+5G>C MANE Select | NP_000312.2:n.1389+5G>C |
| ENST00000267163.6:c.1389+5G>C MANE Select | ENSP00000267163.4:n.1389+5G>C |
| NM_000321.2:c.1389+5G>C , LRG_517t1:c.1389+5G>C | NP_000312.2:n.1389+5G>C |
| ENST00000267163.4:c.1389+5G>C | ENSP00000267163.4:n.1389+5G>C |
| ENST00000650461.1:c.1389+5G>C | ENSP00000497193.1:n.1389+5G>C |
| XM_011535171.1:c.1128+5G>C | XP_011533473.1:n.1128+5G>C |
| XM_011535171.2:c.1128+5G>C | XP_011533473.1:n.1128+5G>C |
| XR_002957522.1:n.40+180C>G |