Linked Data
dbSNP Id:
rs2040556107
gnomAD v3:
14-24240691-T-C
gnomAD v4:
14-24240691-T-C
MyVariant Identifiers:
chr14:g.24709897T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24240691T>C , CM000676.2:g.24240691T>C | GRCh38 |
| NC_000014.8:g.24709897T>C , CM000676.1:g.24709897T>C | GRCh37 |
| NC_000014.7:g.23779737T>C | NCBI36 |
| NG_016650.1:g.6984A>G | |
| NG_054634.1:g.13275T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557915.2:n.1092A>G | ||
| ENST00000557921.3:c.681A>G | ENSP00000453157.3:p.Leu227= | |
| ENST00000699682.1:n.1179A>G | ||
| ENST00000699683.1:n.1229A>G | ||
| ENST00000699684.1:c.*382A>G | ENSP00000514523.1:n.*382A>G | |
| ENST00000699685.1:n.993A>G | ||
| ENST00000699686.1:c.582A>G | ENSP00000514524.1:p.Leu194= | |
| ENST00000699687.1:c.684A>G | ENSP00000514525.1:p.Leu228= | |
| ENST00000699688.1:n.989A>G | ||
| ENST00000699689.1:n.1345A>G | ||
| ENST00000699690.1:n.1542A>G | ||
| ENST00000699691.1:n.1686A>G | ||
| ENST00000699693.1:n.1206A>G | ||
| ENST00000699694.1:n.1448A>G | ||
| ENST00000699695.1:c.*161A>G | ENSP00000514526.1:n.*161A>G | |
| ENST00000699696.1:n.1092A>G | ||
| ENST00000699697.1:c.789A>G | ENSP00000514527.1:p.Leu263= | |
| ENST00000699698.1:n.710A>G | ||
| ENST00000699699.1:n.1113A>G | ||
| ENST00000699700.1:n.1236A>G | ||
| ENST00000699701.1:c.*169A>G | ENSP00000514528.1:n.*169A>G | |
| ENST00000267415.12:c.789A>G MANE Select | ENSP00000267415.7:p.Leu263= | |
| ENST00000557921.2:c.681A>G | ENSP00000453157.2:p.Leu227= | |
| ENST00000646753.1:c.684A>G | ENSP00000494065.1:p.Leu228= | |
| ENST00000267415.11:c.789A>G | ENSP00000267415.7:p.Leu263= | |
| ENST00000399423.8:c.789A>G | ENSP00000382350.4:p.Leu263= | |
| ENST00000558476.5:c.351A>G | ENSP00000452724.1:p.Leu117= | |
| ENST00000558566.1:c.*161A>G | ENSP00000453025.1:n.*161A>G | |
| ENST00000559019.1:c.*161A>G | ENSP00000453675.1:n.*161A>G | |
| ENST00000559549.1:n.515A>G | ||
| ENST00000559969.5:c.745A>G | ||
| ENST00000626689.2:c.*161A>G | ENSP00000486681.1:n.*161A>G | |
| NM_001099274.1:c.789A>G | NP_001092744.1:p.Leu263= | |
| NM_012461.2:c.789A>G | NP_036593.2:p.Leu263= | |
| XM_005267528.2:c.789A>G | XP_005267585.1:p.Leu263= | |
| XM_005267529.2:c.684A>G | XP_005267586.1:p.Leu228= | |
| NM_001099274.2:c.789A>G | NP_001092744.1:p.Leu263= | |
| NM_001363668.1:c.684A>G | NP_001350597.1:p.Leu228= | |
| NM_012461.3:c.789A>G | NP_036593.2:p.Leu263= | |
| XM_011536642.2:c.*169A>G | XP_011534944.1:n.*169A>G | |
| XM_017021216.2:c.147A>G | XP_016876705.1:p.Leu49= | |
| XM_017021217.1:c.147A>G | XP_016876706.1:p.Leu49= | |
| NM_001099274.3:c.789A>G MANE Select | NP_001092744.1:p.Leu263= | |
| NM_001363668.2:c.684A>G | NP_001350597.1:p.Leu228= |