Linked Data
ClinVar Variation Id:
2734037
ClinVar RCV Id:
RCV003527184
dbSNP Id:
rs1301351856
gnomAD v2:
1-173873111-G-C
gnomAD v4:
1-173903973-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173903973G>C , CM000663.2:g.173903973G>C | GRCh38 |
| NC_000001.10:g.173873111G>C , CM000663.1:g.173873111G>C | GRCh37 |
| NC_000001.9:g.172139734G>C | NCBI36 |
| NG_012462.1:g.18406C>G , LRG_577:g.18406C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.1311C>G MANE Select | ENSP00000356671.3:p.Asn437Lys | |
| ENST00000367698.3:c.1311C>G | ENSP00000356671.3:p.Asn437Lys | |
| ENST00000617423.4:c.696C>G | ENSP00000478688.1:p.Asn232Lys | |
| NM_000488.3:c.1311C>G , LRG_577t1:c.1311C>G | NP_000479.1:p.Asn437Lys | |
| XM_005245198.2:c.1167C>G | XP_005245255.1:p.Asn389Lys | |
| NM_001365052.1:c.1167C>G | NP_001351981.1:p.Asn389Lys | |
| NM_000488.4:c.1311C>G MANE Select | NP_000479.1:p.Asn437Lys | |
| NM_001365052.2:c.1167C>G | NP_001351981.1:p.Asn389Lys | |
| NM_001386302.1:c.1434C>G | NP_001373231.1:p.Asn478Lys | |
| NM_001386303.1:c.1392C>G | NP_001373232.1:p.Asn464Lys | |
| NM_001386304.1:c.1290C>G | NP_001373233.1:p.Asn430Lys | |
| NM_001386305.1:c.1254C>G | NP_001373234.1:p.Asn418Lys | |
| NM_001386306.1:c.1095C>G | NP_001373235.1:p.Asn365Lys |