Linked Data
ClinVar Variation Id:
2652101
ClinVar RCV Id:
RCV003431211
dbSNP Id:
rs372103663
gnomAD v2:
2-241874861-G-A
gnomAD v3:
2-240935444-G-A
gnomAD v4:
2-240935444-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240935444G>A , CM000664.2:g.240935444G>A | GRCh38 |
| NC_000002.11:g.241874861G>A , CM000664.1:g.241874861G>A | GRCh37 |
| NC_000002.10:g.241523534G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690015.1:c.2025G>A MANE Select | ENSP00000508848.1:p.Ala675= | |
| ENST00000443866.2:c.2025G>A | ENSP00000397968.2:p.Ala675= | |
| XM_011512297.1:c.2019G>A | XP_011510599.1:p.Ala673= | |
| NM_001351305.1:c.2025G>A | NP_001338234.1:p.Ala675= | |
| XM_024453115.1:c.2025G>A | XP_024308883.1:p.Ala675= | |
| NM_001351305.2:c.2025G>A MANE Select | NP_001338234.1:p.Ala675= |