Linked Data
ClinVar Variation Id:
184181
ClinVar RCV Id:
RCV000163365
RCV000679215
RCV001087499
RCV001139579
RCV001192486
RCV001357225
RCV003995251
dbSNP Id:
rs768803986
ExAC:
2:48010519 C / T
gnomAD v2:
2-48010519-C-T
gnomAD v3:
2-47783380-C-T
gnomAD v4:
2-47783380-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47783380C>T , CM000664.2:g.47783380C>T | GRCh38 |
| NC_000002.11:g.48010519C>T , CM000664.1:g.48010519C>T | GRCh37 |
| NC_000002.10:g.47864023C>T | NCBI36 |
| NG_007111.1:g.5234C>T , LRG_219:g.5234C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700004.2:c.147C>T | ENSP00000514752.2:p.Ala49= | |
| ENST00000699999.1:n.231C>T | ||
| ENST00000700000.1:c.147C>T | ENSP00000514749.1:p.Ala49= | |
| ENST00000700001.1:n.219C>T | ||
| ENST00000700002.1:c.147C>T | ENSP00000514750.1:p.Ala49= | |
| ENST00000700003.1:c.147C>T | ENSP00000514751.1:p.Ala49= | |
| ENST00000234420.11:c.147C>T MANE Select | ENSP00000234420.5:p.Ala49= | |
| ENST00000540021.6:c.147C>T | ENSP00000446475.1:p.Ala49= | |
| ENST00000652107.1:c.-37-7547C>T | ENSP00000498629.1:n.-37-7547C>T | |
| ENST00000673637.1:c.-38+149C>T | ENSP00000501310.1:n.-38+149C>T | |
| ENST00000673922.1:n.236C>T | ||
| ENST00000234420.9:c.147C>T | ENSP00000234420.4:p.Ala49= | |
| ENST00000445503.5:c.147C>T | ENSP00000405294.1:p.Ala49= | |
| ENST00000456246.1:c.147C>T | ENSP00000410570.1:p.Ala49= | |
| ENST00000493177.1:n.211C>T | ||
| ENST00000540021.5:c.147C>T | ENSP00000446475.1:p.Ala49= | |
| ENST00000606499.1:c.-37-7547C>T | ENSP00000475605.1:n.-37-7547C>T | |
| ENST00000614496.4:c.-590C>T | ENSP00000477844.1:n.-590C>T | |
| ENST00000616033.4:c.145C>T | ENSP00000480261.1:p.Leu49= | |
| ENST00000622629.4:c.-2950C>T | ENSP00000482078.1:n.-2950C>T | |
| NM_000179.2:c.147C>T , LRG_219t1:c.147C>T | NP_000170.1:p.Ala49= | |
| NM_001281492.1:c.147C>T | NP_001268421.1:p.Ala49= | |
| NM_001281493.1:c.-590C>T | NP_001268422.1:n.-590C>T | |
| XM_011532800.1:c.-38+149C>T | XP_011531102.1:n.-38+149C>T | |
| XM_024452819.1:c.147C>T | XP_024308587.1:p.Ala49= | |
| XM_024452822.1:c.-590C>T | XP_024308590.1:n.-590C>T | |
| NM_000179.3:c.147C>T MANE Select | NP_000170.1:p.Ala49= | |
| NM_001281492.2:c.147C>T | NP_001268421.1:p.Ala49= | |
| NM_001281493.2:c.-590C>T | NP_001268422.1:n.-590C>T |