Linked Data
ClinVar Variation Id:
402230
dbSNP Id:
rs755117226
ExAC:
4:155508672 G / A
gnomAD v2:
4-155508672-G-A
gnomAD v3:
4-154587520-G-A
gnomAD v4:
4-154587520-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154587520G>A , CM000666.2:g.154587520G>A | GRCh38 |
| NC_000004.11:g.155508672G>A , CM000666.1:g.155508672G>A | GRCh37 |
| NC_000004.10:g.155728122G>A | NCBI36 |
| NG_008832.1:g.8226C>T , LRG_557:g.8226C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651975.2:c.502C>T | ENSP00000498441.1:p.Arg168Ter | |
| ENST00000403106.8:c.502C>T MANE Select | ENSP00000385981.3:p.Arg168Ter | |
| ENST00000651975.1:c.502C>T | ENSP00000498441.1:p.Arg168Ter | |
| ENST00000302053.7:c.502C>T | ENSP00000306361.3:p.Arg168Ter | |
| ENST00000403106.7:c.502C>T | ENSP00000385981.3:p.Arg168Ter | |
| ENST00000622532.1:c.502C>T | ENSP00000478487.1:p.Arg168Ter | |
| NM_000508.3:c.502C>T , LRG_557t1:c.502C>T | NP_000499.1:p.Arg168Ter | |
| NM_021871.2:c.502C>T , LRG_557t2:c.502C>T | NP_068657.1:p.Arg168Ter | |
| NM_000508.4:c.502C>T | NP_000499.1:p.Arg168Ter | |
| NM_021871.3:c.502C>T | NP_068657.1:p.Arg168Ter | |
| NM_021871.4:c.502C>T MANE Select | NP_068657.1:p.Arg168Ter | |
| NM_000508.5:c.502C>T | NP_000499.1:p.Arg168Ter |