Linked Data
ClinVar Variation Id:
280299
ClinVar RCV Id:
RCV002487176
dbSNP Id:
rs201677741
ExAC:
14:24709750 G / T
gnomAD v2:
14-24709750-G-T
gnomAD v3:
14-24240544-G-T
gnomAD v4:
14-24240544-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24240544G>T , CM000676.2:g.24240544G>T | GRCh38 |
| NC_000014.8:g.24709750G>T , CM000676.1:g.24709750G>T | GRCh37 |
| NC_000014.7:g.23779590G>T | NCBI36 |
| NG_016650.1:g.7131C>A | |
| NG_054634.1:g.13128G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000557915.2:n.1239C>A | ||
| ENST00000557921.3:c.828C>A | ENSP00000453157.3:p.Tyr276Ter | |
| ENST00000699682.1:n.1326C>A | ||
| ENST00000699683.1:n.1376C>A | ||
| ENST00000699684.1:c.*529C>A | ENSP00000514523.1:n.*529C>A | |
| ENST00000699685.1:n.1140C>A | ||
| ENST00000699686.1:c.729C>A | ENSP00000514524.1:p.Tyr243Ter | |
| ENST00000699687.1:c.831C>A | ENSP00000514525.1:p.Tyr277Ter | |
| ENST00000699688.1:n.1136C>A | ||
| ENST00000699689.1:n.1492C>A | ||
| ENST00000699690.1:n.1689C>A | ||
| ENST00000699691.1:n.1833C>A | ||
| ENST00000699693.1:n.1353C>A | ||
| ENST00000699694.1:n.1595C>A | ||
| ENST00000699695.1:c.*308C>A | ENSP00000514526.1:n.*308C>A | |
| ENST00000699696.1:n.1239C>A | ||
| ENST00000699697.1:c.936C>A | ENSP00000514527.1:p.Tyr312Ter | |
| ENST00000699698.1:n.857C>A | ||
| ENST00000699699.1:n.1260C>A | ||
| ENST00000699700.1:n.1383C>A | ||
| ENST00000699701.1:c.*316C>A | ENSP00000514528.1:n.*316C>A | |
| ENST00000267415.12:c.936C>A MANE Select | ENSP00000267415.7:p.Tyr312Ter | |
| ENST00000557921.2:c.828C>A | ENSP00000453157.2:p.Tyr276Ter | |
| ENST00000646753.1:c.831C>A | ENSP00000494065.1:p.Tyr277Ter | |
| ENST00000267415.11:c.936C>A | ENSP00000267415.7:p.Tyr312Ter | |
| ENST00000399423.8:c.936C>A | ENSP00000382350.4:p.Tyr312Ter | |
| ENST00000557915.1:n.55C>A | ||
| ENST00000558566.1:c.*308C>A | ENSP00000453025.1:n.*308C>A | |
| ENST00000559019.1:c.*308C>A | ENSP00000453675.1:n.*308C>A | |
| ENST00000559969.5:c.758-64C>A | ||
| ENST00000626689.2:c.*308C>A | ENSP00000486681.1:n.*308C>A | |
| NM_001099274.1:c.936C>A | NP_001092744.1:p.Tyr312Ter | |
| NM_012461.2:c.936C>A | NP_036593.2:p.Tyr312Ter | |
| XM_005267528.2:c.936C>A | XP_005267585.1:p.Tyr312Ter | |
| XM_005267529.2:c.831C>A | XP_005267586.1:p.Tyr277Ter | |
| NM_001099274.2:c.936C>A | NP_001092744.1:p.Tyr312Ter | |
| NM_001363668.1:c.831C>A | NP_001350597.1:p.Tyr277Ter | |
| NM_012461.3:c.936C>A | NP_036593.2:p.Tyr312Ter | |
| XM_011536642.2:c.*316C>A | XP_011534944.1:n.*316C>A | |
| XM_017021216.2:c.294C>A | XP_016876705.1:p.Tyr98Ter | |
| XM_017021217.1:c.294C>A | XP_016876706.1:p.Tyr98Ter | |
| NM_001099274.3:c.936C>A MANE Select | NP_001092744.1:p.Tyr312Ter | |
| NM_001363668.2:c.831C>A | NP_001350597.1:p.Tyr277Ter |