Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48368560C>A , CM000675.2:g.48368560C>A | GRCh38 |
| NC_000013.10:g.48942696C>A , CM000675.1:g.48942696C>A | GRCh37 |
| NC_000013.9:g.47840697C>A | NCBI36 |
| NG_009009.1:g.69814C>A , LRG_517:g.69814C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000321.3:c.1083C>A MANE Select | NP_000312.2:p.Asn361Lys |
| ENST00000267163.6:c.1083C>A MANE Select | ENSP00000267163.4:p.Asn361Lys |
| NM_000321.2:c.1083C>A , LRG_517t1:c.1083C>A | NP_000312.2:p.Asn361Lys |
| ENST00000267163.4:c.1083C>A | ENSP00000267163.4:p.Asn361Lys |
| ENST00000650461.1:c.1083C>A | ENSP00000497193.1:p.Asn361Lys |
| XM_011535171.1:c.822C>A | XP_011533473.1:p.Asn274Lys |
| XM_011535171.2:c.822C>A | XP_011533473.1:p.Asn274Lys |
| XR_002957522.1:n.122-3584G>T |