Linked Data
ClinVar Variation Id:
2161080
ClinVar RCV Id:
RCV003078395
dbSNP Id:
rs1283573184
gnomAD v2:
3-33038602-C-T
gnomAD v4:
3-32997110-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.32997110C>T , CM000665.2:g.32997110C>T | GRCh38 |
| NC_000003.11:g.33038602C>T , CM000665.1:g.33038602C>T | GRCh37 |
| NC_000003.10:g.33013606C>T | NCBI36 |
| NG_009005.1:g.105093G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307363.10:c.1969G>A MANE Select | ENSP00000306920.4:p.Val657Ile | |
| ENST00000307363.9:c.1969G>A | ENSP00000306920.4:p.Val657Ile | |
| ENST00000307377.12:c.1576G>A | ENSP00000305920.8:p.Val526Ile | |
| ENST00000399402.7:c.1879G>A | ENSP00000382333.2:p.Val627Ile | |
| NM_000404.2:c.1969G>A | NP_000395.2:p.Val657Ile | |
| NM_000404.3:c.1969G>A | NP_000395.2:p.Val657Ile | |
| NM_001079811.1:c.1879G>A | NP_001073279.1:p.Val627Ile | |
| NM_001079811.2:c.1879G>A | NP_001073279.1:p.Val627Ile | |
| NM_001135602.1:c.1576G>A | NP_001129074.1:p.Val526Ile | |
| NM_001135602.2:c.1576G>A | NP_001129074.1:p.Val526Ile | |
| NM_001317040.1:c.2113G>A | NP_001303969.1:p.Val705Ile | |
| NM_000404.4:c.1969G>A MANE Select | NP_000395.3:p.Val657Ile | |
| NM_001079811.3:c.1879G>A | NP_001073279.2:p.Val627Ile | |
| NM_001135602.3:c.1576G>A | NP_001129074.2:p.Val526Ile | |
| NM_001317040.2:c.2113G>A | NP_001303969.2:p.Val705Ile | |
| NM_001393580.1:c.1734+16946G>A | NP_001380509.1:n.1734+16946G>A |