Linked Data
ClinVar Variation Id:
312961
dbSNP Id:
rs577503785
gnomAD v2:
14-24711699-C-T
gnomAD v3:
14-24242493-C-T
gnomAD v4:
14-24242493-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24242493C>T , CM000676.2:g.24242493C>T | GRCh38 |
| NC_000014.8:g.24711699C>T , CM000676.1:g.24711699C>T | GRCh37 |
| NC_000014.7:g.23781539C>T | NCBI36 |
| NG_016650.1:g.5182G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557915.2:n.143G>A | ||
| ENST00000699682.1:n.143G>A | ||
| ENST00000699683.1:n.134G>A | ||
| ENST00000699684.1:c.-161G>A | ENSP00000514523.1:n.-161G>A | |
| ENST00000699685.1:n.103G>A | ||
| ENST00000699688.1:n.2G>A | ||
| ENST00000699689.1:n.137G>A | ||
| ENST00000699690.1:n.143G>A | ||
| ENST00000699691.1:n.143G>A | ||
| ENST00000699694.1:n.96G>A | ||
| ENST00000699695.1:c.-161G>A | ENSP00000514526.1:n.-161G>A | |
| ENST00000699696.1:n.143G>A | ||
| ENST00000699697.1:c.-161G>A | ENSP00000514527.1:n.-161G>A | |
| ENST00000699700.1:n.143G>A | ||
| ENST00000699701.1:c.-161G>A | ENSP00000514528.1:n.-161G>A | |
| ENST00000267415.12:c.-161G>A MANE Select | ENSP00000267415.7:n.-161G>A | |
| ENST00000646753.1:c.-161G>A | ENSP00000494065.1:n.-161G>A | |
| ENST00000267415.11:c.-161G>A | ENSP00000267415.7:n.-161G>A | |
| ENST00000399423.8:c.-161G>A | ENSP00000382350.4:n.-161G>A | |
| ENST00000557921.1:c.-161G>A | ENSP00000453157.1:n.-161G>A | |
| ENST00000558476.5:c.-363G>A | ENSP00000452724.1:n.-363G>A | |
| ENST00000558510.1:n.143G>A | ||
| ENST00000558566.1:c.-161G>A | ENSP00000453025.1:n.-161G>A | |
| ENST00000559019.1:c.-161G>A | ENSP00000453675.1:n.-161G>A | |
| ENST00000626689.2:c.-161G>A | ENSP00000486681.1:n.-161G>A | |
| NM_001099274.1:c.-161G>A | NP_001092744.1:n.-161G>A | |
| NM_012461.2:c.-161G>A | NP_036593.2:n.-161G>A | |
| XM_005267528.2:c.-161G>A | XP_005267585.1:n.-161G>A | |
| XM_005267529.2:c.-161G>A | XP_005267586.1:n.-161G>A | |
| XM_011536642.1:c.-161G>A | XP_011534944.1:n.-161G>A | |
| NM_001099274.2:c.-161G>A | NP_001092744.1:n.-161G>A | |
| NM_001363668.1:c.-161G>A | NP_001350597.1:n.-161G>A | |
| NM_012461.3:c.-161G>A | NP_036593.2:n.-161G>A | |
| XM_011536642.2:c.-161G>A | XP_011534944.1:n.-161G>A | |
| XM_017021216.2:c.-391G>A | XP_016876705.1:n.-391G>A | |
| NM_001099274.3:c.-161G>A MANE Select | NP_001092744.1:n.-161G>A | |
| NM_001363668.2:c.-161G>A | NP_001350597.1:n.-161G>A |