ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173907462C>G , CM000663.2:g.173907462C>G | GRCh38 |
| NC_000001.10:g.173876600C>G , CM000663.1:g.173876600C>G | GRCh37 |
| NC_000001.9:g.172143223C>G | NCBI36 |
| NG_012462.1:g.14917G>C , LRG_577:g.14917G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.1206G>C MANE Select | ENSP00000356671.3:p.Lys402Asn | |
| ENST00000367698.3:c.1206G>C | ENSP00000356671.3:p.Lys402Asn | |
| ENST00000617423.4:c.591G>C | ENSP00000478688.1:p.Lys197Asn | |
| NM_000488.3:c.1206G>C , LRG_577t1:c.1206G>C | NP_000479.1:p.Lys402Asn | |
| XM_005245198.2:c.1062G>C | XP_005245255.1:p.Lys354Asn | |
| NM_001365052.1:c.1062G>C | NP_001351981.1:p.Lys354Asn | |
| NM_000488.4:c.1206G>C MANE Select | NP_000479.1:p.Lys402Asn | |
| NM_001365052.2:c.1062G>C | NP_001351981.1:p.Lys354Asn | |
| NM_001386302.1:c.1329G>C | NP_001373231.1:p.Lys443Asn | |
| NM_001386303.1:c.1287G>C | NP_001373232.1:p.Lys429Asn | |
| NM_001386304.1:c.1185G>C | NP_001373233.1:p.Lys395Asn | |
| NM_001386305.1:c.1149G>C | NP_001373234.1:p.Lys383Asn | |
| NM_001386306.1:c.990G>C | NP_001373235.1:p.Lys330Asn |