Linked Data
dbSNP Id:
rs746402824
ExAC:
1:173873132 G / T
gnomAD v2:
1-173873132-G-T
gnomAD v4:
1-173903994-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173903994G>T , CM000663.2:g.173903994G>T | GRCh38 |
| NC_000001.10:g.173873132G>T , CM000663.1:g.173873132G>T | GRCh37 |
| NC_000001.9:g.172139755G>T | NCBI36 |
| NG_012462.1:g.18385C>A , LRG_577:g.18385C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.1290C>A MANE Select | ENSP00000356671.3:p.Asn430Lys | |
| ENST00000367698.3:c.1290C>A | ENSP00000356671.3:p.Asn430Lys | |
| ENST00000617423.4:c.675C>A | ENSP00000478688.1:p.Asn225Lys | |
| NM_000488.3:c.1290C>A , LRG_577t1:c.1290C>A | NP_000479.1:p.Asn430Lys | |
| XM_005245198.2:c.1146C>A | XP_005245255.1:p.Asn382Lys | |
| NM_001365052.1:c.1146C>A | NP_001351981.1:p.Asn382Lys | |
| NM_000488.4:c.1290C>A MANE Select | NP_000479.1:p.Asn430Lys | |
| NM_001365052.2:c.1146C>A | NP_001351981.1:p.Asn382Lys | |
| NM_001386302.1:c.1413C>A | NP_001373231.1:p.Asn471Lys | |
| NM_001386303.1:c.1371C>A | NP_001373232.1:p.Asn457Lys | |
| NM_001386304.1:c.1269C>A | NP_001373233.1:p.Asn423Lys | |
| NM_001386305.1:c.1233C>A | NP_001373234.1:p.Asn411Lys | |
| NM_001386306.1:c.1074C>A | NP_001373235.1:p.Asn358Lys |