Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.161420222C>A , CM000664.2:g.161420222C>A | GRCh38 |
| NC_000002.11:g.162276733C>A , CM000664.1:g.162276733C>A | GRCh37 |
| NC_000002.10:g.161984979C>A | NCBI36 |
| NG_046904.1:g.9114C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006593.4:c.1155C>A MANE Select | NP_006584.1:p.Asn385Lys |
| ENST00000389554.8:c.1155C>A MANE Select | ENSP00000374205.3:p.Asn385Lys |
| NM_006593.2:c.1155C>A | NP_006584.1:p.Asn385Lys |
| NM_006593.3:c.1155C>A | NP_006584.1:p.Asn385Lys |
| ENST00000389554.7:c.1155C>A | ENSP00000374205.3:p.Asn385Lys |
| ENST00000410035.1:c.294C>A | ENSP00000387023.1:p.Asn98Lys |
| ENST00000411412.5:c.360C>A | ENSP00000393934.1:p.Asn120Lys |
| ENST00000463544.1:n.3522C>A | |
| ENST00000477804.5:n.109C>A | |
| ENST00000489530.1:n.436C>A |