MyVariant.info:
GRCh37
chr14:g.24709827G>A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24240621G>A , CM000676.2:g.24240621G>A | GRCh38 |
| NC_000014.8:g.24709827G>A , CM000676.1:g.24709827G>A | GRCh37 |
| NC_000014.7:g.23779667G>A | NCBI36 |
| NG_016650.1:g.7054C>T | |
| NG_054634.1:g.13205G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557915.2:n.1162C>T | ||
| ENST00000557921.3:c.751C>T | ENSP00000453157.3:p.Leu251= | |
| ENST00000699682.1:n.1249C>T | ||
| ENST00000699683.1:n.1299C>T | ||
| ENST00000699684.1:c.*452C>T | ENSP00000514523.1:n.*452C>T | |
| ENST00000699685.1:n.1063C>T | ||
| ENST00000699686.1:c.652C>T | ENSP00000514524.1:p.Leu218= | |
| ENST00000699687.1:c.754C>T | ENSP00000514525.1:p.Leu252= | |
| ENST00000699688.1:n.1059C>T | ||
| ENST00000699689.1:n.1415C>T | ||
| ENST00000699690.1:n.1612C>T | ||
| ENST00000699691.1:n.1756C>T | ||
| ENST00000699693.1:n.1276C>T | ||
| ENST00000699694.1:n.1518C>T | ||
| ENST00000699695.1:c.*231C>T | ENSP00000514526.1:n.*231C>T | |
| ENST00000699696.1:n.1162C>T | ||
| ENST00000699697.1:c.859C>T | ENSP00000514527.1:p.Leu287= | |
| ENST00000699698.1:n.780C>T | ||
| ENST00000699699.1:n.1183C>T | ||
| ENST00000699700.1:n.1306C>T | ||
| ENST00000699701.1:c.*239C>T | ENSP00000514528.1:n.*239C>T | |
| ENST00000267415.12:c.859C>T MANE Select | ENSP00000267415.7:p.Leu287= | |
| ENST00000557921.2:c.751C>T | ENSP00000453157.2:p.Leu251= | |
| ENST00000646753.1:c.754C>T | ENSP00000494065.1:p.Leu252= | |
| ENST00000267415.11:c.859C>T | ENSP00000267415.7:p.Leu287= | |
| ENST00000399423.8:c.859C>T | ENSP00000382350.4:p.Leu287= | |
| ENST00000558476.5:c.421C>T | ENSP00000452724.1:p.Leu141= | |
| ENST00000558566.1:c.*231C>T | ENSP00000453025.1:n.*231C>T | |
| ENST00000559019.1:c.*231C>T | ENSP00000453675.1:n.*231C>T | |
| ENST00000559549.1:n.585C>T | ||
| ENST00000559969.5:c.757+58C>T | ||
| ENST00000626689.2:c.*231C>T | ENSP00000486681.1:n.*231C>T | |
| NM_001099274.1:c.859C>T | NP_001092744.1:p.Leu287= | |
| NM_012461.2:c.859C>T | NP_036593.2:p.Leu287= | |
| XM_005267528.2:c.859C>T | XP_005267585.1:p.Leu287= | |
| XM_005267529.2:c.754C>T | XP_005267586.1:p.Leu252= | |
| NM_001099274.2:c.859C>T | NP_001092744.1:p.Leu287= | |
| NM_001363668.1:c.754C>T | NP_001350597.1:p.Leu252= | |
| NM_012461.3:c.859C>T | NP_036593.2:p.Leu287= | |
| XM_011536642.2:c.*239C>T | XP_011534944.1:n.*239C>T | |
| XM_017021216.2:c.217C>T | XP_016876705.1:p.Leu73= | |
| XM_017021217.1:c.217C>T | XP_016876706.1:p.Leu73= | |
| NM_001099274.3:c.859C>T MANE Select | NP_001092744.1:p.Leu287= | |
| NM_001363668.2:c.754C>T | NP_001350597.1:p.Leu252= |