Linked Data
ClinVar Variation Id:
195484
dbSNP Id:
rs3729751
ExAC:
5:38481703 G / A
gnomAD v2:
5-38481703-G-A
gnomAD v3:
5-38481601-G-A
gnomAD v4:
5-38481601-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.38481601G>A , CM000667.2:g.38481601G>A | GRCh38 |
| NC_000005.9:g.38481703G>A , CM000667.1:g.38481703G>A | GRCh37 |
| NC_000005.8:g.38517460G>A | NCBI36 |
| NG_011817.1:g.118805C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000453190.7:c.3288C>T MANE Select | ENSP00000398368.2:p.Asn1096= | |
| ENST00000263409.8:c.3288C>T | ENSP00000263409.4:p.Asn1096= | |
| ENST00000453190.6:c.3288C>T | ENSP00000398368.2:p.Asn1096= | |
| NM_001127671.1:c.3288C>T | NP_001121143.1:p.Asn1096= | |
| NM_002310.5:c.3288C>T | NP_002301.1:p.Asn1096= | |
| XM_011514040.1:c.3288C>T | XP_011512342.1:p.Asn1096= | |
| XM_011514041.1:c.3288C>T | XP_011512343.1:p.Asn1096= | |
| XM_011514042.1:c.3288C>T | XP_011512344.1:p.Asn1096= | |
| NM_001364297.1:c.3288C>T | NP_001351226.1:p.Asn1096= | |
| NM_001364298.1:c.3255C>T | NP_001351227.1:p.Asn1085= | |
| XM_011514042.3:c.3288C>T | XP_011512344.1:p.Asn1096= | |
| XM_017009462.1:c.3342C>T | XP_016864951.1:p.Asn1114= | |
| XM_017009463.1:c.3288C>T | XP_016864952.1:p.Asn1096= | |
| NM_001127671.2:c.3288C>T MANE Select | NP_001121143.1:p.Asn1096= | |
| NM_002310.6:c.3288C>T | NP_002301.1:p.Asn1096= | |
| NM_001364297.2:c.3288C>T | NP_001351226.1:p.Asn1096= | |
| NM_001364298.2:c.3255C>T | NP_001351227.1:p.Asn1085= |