Linked Data
ClinVar Variation Id:
312957
dbSNP Id:
rs367835995
ExAC:
14:24711477 T / C
gnomAD v2:
14-24711477-T-C
gnomAD v3:
14-24242271-T-C
gnomAD v4:
14-24242271-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24242271T>C , CM000676.2:g.24242271T>C | GRCh38 |
| NC_000014.8:g.24711477T>C , CM000676.1:g.24711477T>C | GRCh37 |
| NC_000014.7:g.23781317T>C | NCBI36 |
| NG_016650.1:g.5404A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557915.2:n.365A>G | ||
| ENST00000557921.3:c.62A>G | ENSP00000453157.3:p.Gln21Arg | |
| ENST00000699682.1:n.365A>G | ||
| ENST00000699683.1:n.356A>G | ||
| ENST00000699684.1:c.62A>G | ENSP00000514523.1:p.Gln21Arg | |
| ENST00000699685.1:n.325A>G | ||
| ENST00000699686.1:c.62A>G | ENSP00000514524.1:p.Gln21Arg | |
| ENST00000699687.1:c.62A>G | ENSP00000514525.1:p.Gln21Arg | |
| ENST00000699688.1:n.224A>G | ||
| ENST00000699689.1:n.359A>G | ||
| ENST00000699690.1:n.365A>G | ||
| ENST00000699691.1:n.365A>G | ||
| ENST00000699693.1:n.76A>G | ||
| ENST00000699694.1:n.318A>G | ||
| ENST00000699695.1:c.62A>G | ENSP00000514526.1:p.Gln21Arg | |
| ENST00000699696.1:n.365A>G | ||
| ENST00000699697.1:c.62A>G | ENSP00000514527.1:p.Gln21Arg | |
| ENST00000699698.1:n.88A>G | ||
| ENST00000699700.1:n.365A>G | ||
| ENST00000699701.1:c.62A>G | ENSP00000514528.1:p.Gln21Arg | |
| ENST00000267415.12:c.62A>G MANE Select | ENSP00000267415.7:p.Gln21Arg | |
| ENST00000557921.2:c.62A>G | ENSP00000453157.2:p.Gln21Arg | |
| ENST00000646753.1:c.62A>G | ENSP00000494065.1:p.Gln21Arg | |
| ENST00000267415.11:c.62A>G | ENSP00000267415.7:p.Gln21Arg | |
| ENST00000399423.8:c.62A>G | ENSP00000382350.4:p.Gln21Arg | |
| ENST00000557921.1:c.62A>G | ENSP00000453157.1:p.Gln21Arg | |
| ENST00000558476.5:c.-247+106A>G | ENSP00000452724.1:n.-247+106A>G | |
| ENST00000558510.1:n.365A>G | ||
| ENST00000558566.1:c.62A>G | ENSP00000453025.1:p.Gln21Arg | |
| ENST00000559019.1:c.62A>G | ENSP00000453675.1:p.Gln21Arg | |
| ENST00000559147.1:n.72A>G | ||
| ENST00000559969.5:c.18A>G | ||
| ENST00000626689.2:c.62A>G | ENSP00000486681.1:p.Gln21Arg | |
| NM_001099274.1:c.62A>G | NP_001092744.1:p.Gln21Arg | |
| NM_012461.2:c.62A>G | NP_036593.2:p.Gln21Arg | |
| XM_005267528.2:c.62A>G | XP_005267585.1:p.Gln21Arg | |
| XM_005267529.2:c.62A>G | XP_005267586.1:p.Gln21Arg | |
| XM_011536642.1:c.62A>G | XP_011534944.1:p.Gln21Arg | |
| NM_001099274.2:c.62A>G | NP_001092744.1:p.Gln21Arg | |
| NM_001363668.1:c.62A>G | NP_001350597.1:p.Gln21Arg | |
| NM_012461.3:c.62A>G | NP_036593.2:p.Gln21Arg | |
| XM_011536642.2:c.62A>G | XP_011534944.1:p.Gln21Arg | |
| XM_017021216.2:c.-169A>G | XP_016876705.1:n.-169A>G | |
| NM_001099274.3:c.62A>G MANE Select | NP_001092744.1:p.Gln21Arg | |
| NM_001363668.2:c.62A>G | NP_001350597.1:p.Gln21Arg |