Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152315409C>G , CM000663.2:g.152315409C>G | GRCh38 |
| NC_000001.10:g.152287885C>G , CM000663.1:g.152287885C>G | GRCh37 |
| NC_000001.9:g.150554509C>G | NCBI36 |
| NG_016190.1:g.14795G>C , LRG_1028:g.14795G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002016.2:c.48G>C MANE Select | NP_002007.1:p.Lys16Asn |
| ENST00000368799.2:c.48G>C MANE Select | ENSP00000357789.1:p.Lys16Asn |
| NM_002016.1:c.48G>C , LRG_1028t1:c.48G>C | NP_002007.1:p.Lys16Asn |
| NR_103778.1:n.914+452C>G | |
| ENST00000368799.1:c.48G>C | ENSP00000357789.1:p.Lys16Asn |
| XM_011509329.1:c.48G>C | XP_011507631.1:p.Lys16Asn |