Linked Data
ClinVar Variation Id:
1252841
ClinVar RCV Id:
RCV001661139
dbSNP Id:
rs2070022
gnomAD v2:
4-155504948-G-A
gnomAD v3:
4-154583796-G-A
gnomAD v4:
4-154583796-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154583796G>A , CM000666.2:g.154583796G>A | GRCh38 |
| NC_000004.11:g.155504948G>A , CM000666.1:g.155504948G>A | GRCh37 |
| NC_000004.10:g.155724398G>A | NCBI36 |
| NG_008832.1:g.11950C>T , LRG_557:g.11950C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000651975.2:c.*328C>T | ENSP00000498441.1:n.*328C>T | |
| ENST00000651975.1:c.*328C>T | ENSP00000498441.1:n.*328C>T | |
| ENST00000302053.7:c.*328C>T | ENSP00000306361.3:n.*328C>T | |
| NM_000508.3:c.*328C>T , LRG_557t1:c.*328C>T | NP_000499.1:n.*328C>T | |
| NM_000508.4:c.*328C>T | NP_000499.1:n.*328C>T | |
| NM_000508.5:c.*328C>T | NP_000499.1:n.*328C>T |