Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7933501G>C , CM000681.2:g.7933501G>C | GRCh38 |
| NC_000019.9:g.7998386G>C , CM000681.1:g.7998386G>C | GRCh37 |
| NC_000019.8:g.7904386G>C | NCBI36 |
| NG_051180.1:g.15323C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270538.8:c.753C>G MANE Select | ENSP00000270538.2:p.Asn251Lys | |
| ENST00000270538.7:c.753C>G | ENSP00000270538.2:p.Asn251Lys | |
| ENST00000595831.5:c.740C>G | ||
| ENST00000595876.5:c.*441C>G | ENSP00000471596.1:n.*441C>G | |
| ENST00000597926.1:c.657C>G | ENSP00000469389.1:p.Asn219Lys | |
| ENST00000598675.1:n.159C>G | ||
| NM_006351.3:c.753C>G | NP_006342.2:p.Asn251Lys | |
| NM_006351.4:c.753C>G MANE Select | NP_006342.2:p.Asn251Lys |