Linked Data
dbSNP Id:
rs1416406604
gnomAD v4:
14-24240529-G-C
MyVariant Identifiers:
chr14:g.24709735G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24240529G>C , CM000676.2:g.24240529G>C | GRCh38 |
| NC_000014.8:g.24709735G>C , CM000676.1:g.24709735G>C | GRCh37 |
| NC_000014.7:g.23779575G>C | NCBI36 |
| NG_016650.1:g.7146C>G | |
| NG_054634.1:g.13113G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000557915.2:n.1254C>G | ||
| ENST00000557921.3:c.843C>G | ENSP00000453157.3:p.Ala281= | |
| ENST00000699682.1:n.1341C>G | ||
| ENST00000699683.1:n.1391C>G | ||
| ENST00000699684.1:c.*544C>G | ENSP00000514523.1:n.*544C>G | |
| ENST00000699685.1:n.1155C>G | ||
| ENST00000699686.1:c.744C>G | ENSP00000514524.1:p.Ala248= | |
| ENST00000699687.1:c.846C>G | ENSP00000514525.1:p.Ala282= | |
| ENST00000699688.1:n.1151C>G | ||
| ENST00000699689.1:n.1507C>G | ||
| ENST00000699690.1:n.1704C>G | ||
| ENST00000699691.1:n.1848C>G | ||
| ENST00000699693.1:n.1368C>G | ||
| ENST00000699694.1:n.1610C>G | ||
| ENST00000699695.1:c.*323C>G | ENSP00000514526.1:n.*323C>G | |
| ENST00000699696.1:n.1254C>G | ||
| ENST00000699697.1:c.951C>G | ENSP00000514527.1:p.Ala317= | |
| ENST00000699698.1:n.872C>G | ||
| ENST00000699699.1:n.1275C>G | ||
| ENST00000699700.1:n.1398C>G | ||
| ENST00000699701.1:c.*331C>G | ENSP00000514528.1:n.*331C>G | |
| ENST00000267415.12:c.951C>G MANE Select | ENSP00000267415.7:p.Ala317= | |
| ENST00000557921.2:c.843C>G | ENSP00000453157.2:p.Ala281= | |
| ENST00000646753.1:c.846C>G | ENSP00000494065.1:p.Ala282= | |
| ENST00000267415.11:c.951C>G | ENSP00000267415.7:p.Ala317= | |
| ENST00000399423.8:c.951C>G | ENSP00000382350.4:p.Ala317= | |
| ENST00000557915.1:n.70C>G | ||
| ENST00000558566.1:c.*323C>G | ENSP00000453025.1:n.*323C>G | |
| ENST00000559019.1:c.*323C>G | ENSP00000453675.1:n.*323C>G | |
| ENST00000559969.5:c.758-49C>G | ||
| ENST00000626689.2:c.*323C>G | ENSP00000486681.1:n.*323C>G | |
| NM_001099274.1:c.951C>G | NP_001092744.1:p.Ala317= | |
| NM_012461.2:c.951C>G | NP_036593.2:p.Ala317= | |
| XM_005267528.2:c.951C>G | XP_005267585.1:p.Ala317= | |
| XM_005267529.2:c.846C>G | XP_005267586.1:p.Ala282= | |
| NM_001099274.2:c.951C>G | NP_001092744.1:p.Ala317= | |
| NM_001363668.1:c.846C>G | NP_001350597.1:p.Ala282= | |
| NM_012461.3:c.951C>G | NP_036593.2:p.Ala317= | |
| XM_011536642.2:c.*331C>G | XP_011534944.1:n.*331C>G | |
| XM_017021216.2:c.309C>G | XP_016876705.1:p.Ala103= | |
| XM_017021217.1:c.309C>G | XP_016876706.1:p.Ala103= | |
| NM_001099274.3:c.951C>G MANE Select | NP_001092744.1:p.Ala317= | |
| NM_001363668.2:c.846C>G | NP_001350597.1:p.Ala282= |