Linked Data
ClinVar Variation Id:
2415371
ClinVar RCV Id:
RCV003110790
dbSNP Id:
rs5879
ExAC:
1:173873072 G / A
gnomAD v2:
1-173873072-G-A
gnomAD v3:
1-173903934-G-A
gnomAD v4:
1-173903934-G-A
ERepo:
CA1251215/MONDO:0013144/084
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173903934G>A , CM000663.2:g.173903934G>A | GRCh38 |
| NC_000001.10:g.173873072G>A , CM000663.1:g.173873072G>A | GRCh37 |
| NC_000001.9:g.172139695G>A | NCBI36 |
| NG_012462.1:g.18445C>T , LRG_577:g.18445C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.1350C>T MANE Select | ENSP00000356671.3:p.Asn450= | |
| ENST00000367698.3:c.1350C>T | ENSP00000356671.3:p.Asn450= | |
| ENST00000617423.4:c.735C>T | ENSP00000478688.1:p.Asn245= | |
| NM_000488.3:c.1350C>T , LRG_577t1:c.1350C>T | NP_000479.1:p.Asn450= | |
| XM_005245198.2:c.1206C>T | XP_005245255.1:p.Asn402= | |
| NM_001365052.1:c.1206C>T | NP_001351981.1:p.Asn402= | |
| NM_000488.4:c.1350C>T MANE Select | NP_000479.1:p.Asn450= | |
| NM_001365052.2:c.1206C>T | NP_001351981.1:p.Asn402= | |
| NM_001386302.1:c.1473C>T | NP_001373231.1:p.Asn491= | |
| NM_001386303.1:c.1431C>T | NP_001373232.1:p.Asn477= | |
| NM_001386304.1:c.1329C>T | NP_001373233.1:p.Asn443= | |
| NM_001386305.1:c.1293C>T | NP_001373234.1:p.Asn431= | |
| NM_001386306.1:c.1134C>T | NP_001373235.1:p.Asn378= |