Linked Data
dbSNP Id:
rs751316703
ExAC:
14:24710005 G / T
gnomAD v2:
14-24710005-G-T
gnomAD v4:
14-24240799-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24240799G>T , CM000676.2:g.24240799G>T | GRCh38 |
| NC_000014.8:g.24710005G>T , CM000676.1:g.24710005G>T | GRCh37 |
| NC_000014.7:g.23779845G>T | NCBI36 |
| NG_016650.1:g.6876C>A | |
| NG_054634.1:g.13383G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557915.2:n.984C>A | ||
| ENST00000557921.3:c.573C>A | ENSP00000453157.3:p.Leu191= | |
| ENST00000699682.1:n.1071C>A | ||
| ENST00000699683.1:n.1121C>A | ||
| ENST00000699684.1:c.*274C>A | ENSP00000514523.1:n.*274C>A | |
| ENST00000699685.1:n.885C>A | ||
| ENST00000699686.1:c.474C>A | ENSP00000514524.1:p.Leu158= | |
| ENST00000699687.1:c.576C>A | ENSP00000514525.1:p.Leu192= | |
| ENST00000699688.1:n.881C>A | ||
| ENST00000699689.1:n.1237C>A | ||
| ENST00000699690.1:n.1434C>A | ||
| ENST00000699691.1:n.1578C>A | ||
| ENST00000699693.1:n.1098C>A | ||
| ENST00000699694.1:n.1340C>A | ||
| ENST00000699695.1:c.*53C>A | ENSP00000514526.1:n.*53C>A | |
| ENST00000699696.1:n.984C>A | ||
| ENST00000699697.1:c.681C>A | ENSP00000514527.1:p.Leu227= | |
| ENST00000699698.1:n.602C>A | ||
| ENST00000699699.1:n.1005C>A | ||
| ENST00000699700.1:n.1128C>A | ||
| ENST00000699701.1:c.*61C>A | ENSP00000514528.1:n.*61C>A | |
| ENST00000267415.12:c.681C>A MANE Select | ENSP00000267415.7:p.Leu227= | |
| ENST00000557921.2:c.573C>A | ENSP00000453157.2:p.Leu191= | |
| ENST00000646753.1:c.576C>A | ENSP00000494065.1:p.Leu192= | |
| ENST00000267415.11:c.681C>A | ENSP00000267415.7:p.Leu227= | |
| ENST00000399423.8:c.681C>A | ENSP00000382350.4:p.Leu227= | |
| ENST00000558476.5:c.243C>A | ENSP00000452724.1:p.Leu81= | |
| ENST00000558566.1:c.*53C>A | ENSP00000453025.1:n.*53C>A | |
| ENST00000559019.1:c.*53C>A | ENSP00000453675.1:n.*53C>A | |
| ENST00000559549.1:n.407C>A | ||
| ENST00000559969.5:c.637C>A | ||
| ENST00000626689.2:c.*53C>A | ENSP00000486681.1:n.*53C>A | |
| NM_001099274.1:c.681C>A | NP_001092744.1:p.Leu227= | |
| NM_012461.2:c.681C>A | NP_036593.2:p.Leu227= | |
| XM_005267528.2:c.681C>A | XP_005267585.1:p.Leu227= | |
| XM_005267529.2:c.576C>A | XP_005267586.1:p.Leu192= | |
| XM_011536642.1:c.*61C>A | XP_011534944.1:n.*61C>A | |
| NM_001099274.2:c.681C>A | NP_001092744.1:p.Leu227= | |
| NM_001363668.1:c.576C>A | NP_001350597.1:p.Leu192= | |
| NM_012461.3:c.681C>A | NP_036593.2:p.Leu227= | |
| XM_011536642.2:c.*61C>A | XP_011534944.1:n.*61C>A | |
| XM_017021216.2:c.39C>A | XP_016876705.1:p.Leu13= | |
| XM_017021217.1:c.39C>A | XP_016876706.1:p.Leu13= | |
| NM_001099274.3:c.681C>A MANE Select | NP_001092744.1:p.Leu227= | |
| NM_001363668.2:c.576C>A | NP_001350597.1:p.Leu192= |