Linked Data
ClinVar Variation Id:
1495754
ClinVar RCV Id:
RCV001991542
dbSNP Id:
rs775202856
ExAC:
14:24709955 G / A
gnomAD v2:
14-24709955-G-A
gnomAD v3:
14-24240749-G-A
gnomAD v4:
14-24240749-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24240749G>A , CM000676.2:g.24240749G>A | GRCh38 |
| NC_000014.8:g.24709955G>A , CM000676.1:g.24709955G>A | GRCh37 |
| NC_000014.7:g.23779795G>A | NCBI36 |
| NG_016650.1:g.6926C>T | |
| NG_054634.1:g.13333G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000557915.2:n.1034C>T | ||
| ENST00000557921.3:c.623C>T | ENSP00000453157.3:p.Pro208Leu | |
| ENST00000699682.1:n.1121C>T | ||
| ENST00000699683.1:n.1171C>T | ||
| ENST00000699684.1:c.*324C>T | ENSP00000514523.1:n.*324C>T | |
| ENST00000699685.1:n.935C>T | ||
| ENST00000699686.1:c.524C>T | ENSP00000514524.1:p.Pro175Leu | |
| ENST00000699687.1:c.626C>T | ENSP00000514525.1:p.Pro209Leu | |
| ENST00000699688.1:n.931C>T | ||
| ENST00000699689.1:n.1287C>T | ||
| ENST00000699690.1:n.1484C>T | ||
| ENST00000699691.1:n.1628C>T | ||
| ENST00000699693.1:n.1148C>T | ||
| ENST00000699694.1:n.1390C>T | ||
| ENST00000699695.1:c.*103C>T | ENSP00000514526.1:n.*103C>T | |
| ENST00000699696.1:n.1034C>T | ||
| ENST00000699697.1:c.731C>T | ENSP00000514527.1:p.Pro244Leu | |
| ENST00000699698.1:n.652C>T | ||
| ENST00000699699.1:n.1055C>T | ||
| ENST00000699700.1:n.1178C>T | ||
| ENST00000699701.1:c.*111C>T | ENSP00000514528.1:n.*111C>T | |
| ENST00000267415.12:c.731C>T MANE Select | ENSP00000267415.7:p.Pro244Leu | |
| ENST00000557921.2:c.623C>T | ENSP00000453157.2:p.Pro208Leu | |
| ENST00000646753.1:c.626C>T | ENSP00000494065.1:p.Pro209Leu | |
| ENST00000267415.11:c.731C>T | ENSP00000267415.7:p.Pro244Leu | |
| ENST00000399423.8:c.731C>T | ENSP00000382350.4:p.Pro244Leu | |
| ENST00000558476.5:c.293C>T | ENSP00000452724.1:p.Pro98Leu | |
| ENST00000558566.1:c.*103C>T | ENSP00000453025.1:n.*103C>T | |
| ENST00000559019.1:c.*103C>T | ENSP00000453675.1:n.*103C>T | |
| ENST00000559549.1:n.457C>T | ||
| ENST00000559969.5:c.687C>T | ||
| ENST00000626689.2:c.*103C>T | ENSP00000486681.1:n.*103C>T | |
| NM_001099274.1:c.731C>T | NP_001092744.1:p.Pro244Leu | |
| NM_012461.2:c.731C>T | NP_036593.2:p.Pro244Leu | |
| XM_005267528.2:c.731C>T | XP_005267585.1:p.Pro244Leu | |
| XM_005267529.2:c.626C>T | XP_005267586.1:p.Pro209Leu | |
| NM_001099274.2:c.731C>T | NP_001092744.1:p.Pro244Leu | |
| NM_001363668.1:c.626C>T | NP_001350597.1:p.Pro209Leu | |
| NM_012461.3:c.731C>T | NP_036593.2:p.Pro244Leu | |
| XM_011536642.2:c.*111C>T | XP_011534944.1:n.*111C>T | |
| XM_017021216.2:c.89C>T | XP_016876705.1:p.Pro30Leu | |
| XM_017021217.1:c.89C>T | XP_016876706.1:p.Pro30Leu | |
| NM_001099274.3:c.731C>T MANE Select | NP_001092744.1:p.Pro244Leu | |
| NM_001363668.2:c.626C>T | NP_001350597.1:p.Pro209Leu |