Linked Data
dbSNP Id:
rs781293151
ExAC:
8:87655981 G / C
gnomAD v2:
8-87655981-G-C
gnomAD v4:
8-86643753-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86643753G>C , CM000670.2:g.86643753G>C | GRCh38 |
| NC_000008.10:g.87655981G>C , CM000670.1:g.87655981G>C | GRCh37 |
| NC_000008.9:g.87725097G>C | NCBI36 |
| NG_016980.1:g.104923C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.1176C>G MANE Select | ENSP00000316605.5:p.Asn392Lys | |
| ENST00000681546.1:n.996C>G | ||
| ENST00000681746.1:c.1176C>G | ENSP00000505959.1:p.Asn392Lys | |
| ENST00000320005.5:c.1176C>G | ENSP00000316605.5:p.Asn392Lys | |
| NM_019098.4:c.1176C>G | NP_061971.3:p.Asn392Lys | |
| XM_011517138.1:c.762C>G | XP_011515440.1:p.Asn254Lys | |
| XM_011517138.2:c.762C>G | XP_011515440.1:p.Asn254Lys | |
| NM_019098.5:c.1176C>G MANE Select | NP_061971.3:p.Asn392Lys |