Linked Data
ClinVar Variation Id:
2882711
ClinVar RCV Id:
RCV003721676
dbSNP Id:
rs147463751
ExAC:
4:1817499 G / T
gnomAD v2:
4-1817499-G-T
gnomAD v3:
4-1815772-G-T
gnomAD v4:
4-1815772-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1815772G>T , CM000666.2:g.1815772G>T | GRCh38 |
| NC_000004.11:g.1817499G>T , CM000666.1:g.1817499G>T | GRCh37 |
| NC_000004.10:g.1787297G>T | NCBI36 |
| NG_013063.1:g.45476C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302787.3:c.1962C>A MANE Select | ENSP00000305653.2:p.Ile654= | |
| ENST00000302787.2:c.1962C>A | ENSP00000305653.2:p.Ile654= | |
| NM_012318.2:c.1962C>A | NP_036450.1:p.Ile654= | |
| XM_005247970.3:c.1047C>A | XP_005248027.1:p.Ile349= | |
| XM_006713884.1:c.1959C>A | XP_006713947.1:p.Ile653= | |
| NM_012318.3:c.1962C>A MANE Select | NP_036450.1:p.Ile654= |