Linked Data
dbSNP Id:
rs773685955
ExAC:
14:24709831 G / A
gnomAD v2:
14-24709831-G-A
gnomAD v4:
14-24240625-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24240625G>A , CM000676.2:g.24240625G>A | GRCh38 |
| NC_000014.8:g.24709831G>A , CM000676.1:g.24709831G>A | GRCh37 |
| NC_000014.7:g.23779671G>A | NCBI36 |
| NG_016650.1:g.7050C>T | |
| NG_054634.1:g.13209G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000557915.2:n.1158C>T | ||
| ENST00000557921.3:c.747C>T | ENSP00000453157.3:p.Val249= | |
| ENST00000699682.1:n.1245C>T | ||
| ENST00000699683.1:n.1295C>T | ||
| ENST00000699684.1:c.*448C>T | ENSP00000514523.1:n.*448C>T | |
| ENST00000699685.1:n.1059C>T | ||
| ENST00000699686.1:c.648C>T | ENSP00000514524.1:p.Val216= | |
| ENST00000699687.1:c.750C>T | ENSP00000514525.1:p.Val250= | |
| ENST00000699688.1:n.1055C>T | ||
| ENST00000699689.1:n.1411C>T | ||
| ENST00000699690.1:n.1608C>T | ||
| ENST00000699691.1:n.1752C>T | ||
| ENST00000699693.1:n.1272C>T | ||
| ENST00000699694.1:n.1514C>T | ||
| ENST00000699695.1:c.*227C>T | ENSP00000514526.1:n.*227C>T | |
| ENST00000699696.1:n.1158C>T | ||
| ENST00000699697.1:c.855C>T | ENSP00000514527.1:p.Val285= | |
| ENST00000699698.1:n.776C>T | ||
| ENST00000699699.1:n.1179C>T | ||
| ENST00000699700.1:n.1302C>T | ||
| ENST00000699701.1:c.*235C>T | ENSP00000514528.1:n.*235C>T | |
| ENST00000267415.12:c.855C>T MANE Select | ENSP00000267415.7:p.Val285= | |
| ENST00000557921.2:c.747C>T | ENSP00000453157.2:p.Val249= | |
| ENST00000646753.1:c.750C>T | ENSP00000494065.1:p.Val250= | |
| ENST00000267415.11:c.855C>T | ENSP00000267415.7:p.Val285= | |
| ENST00000399423.8:c.855C>T | ENSP00000382350.4:p.Val285= | |
| ENST00000558476.5:c.417C>T | ENSP00000452724.1:p.Val139= | |
| ENST00000558566.1:c.*227C>T | ENSP00000453025.1:n.*227C>T | |
| ENST00000559019.1:c.*227C>T | ENSP00000453675.1:n.*227C>T | |
| ENST00000559549.1:n.581C>T | ||
| ENST00000559969.5:c.757+54C>T | ||
| ENST00000626689.2:c.*227C>T | ENSP00000486681.1:n.*227C>T | |
| NM_001099274.1:c.855C>T | NP_001092744.1:p.Val285= | |
| NM_012461.2:c.855C>T | NP_036593.2:p.Val285= | |
| XM_005267528.2:c.855C>T | XP_005267585.1:p.Val285= | |
| XM_005267529.2:c.750C>T | XP_005267586.1:p.Val250= | |
| NM_001099274.2:c.855C>T | NP_001092744.1:p.Val285= | |
| NM_001363668.1:c.750C>T | NP_001350597.1:p.Val250= | |
| NM_012461.3:c.855C>T | NP_036593.2:p.Val285= | |
| XM_011536642.2:c.*235C>T | XP_011534944.1:n.*235C>T | |
| XM_017021216.2:c.213C>T | XP_016876705.1:p.Val71= | |
| XM_017021217.1:c.213C>T | XP_016876706.1:p.Val71= | |
| NM_001099274.3:c.855C>T MANE Select | NP_001092744.1:p.Val285= | |
| NM_001363668.2:c.750C>T | NP_001350597.1:p.Val250= |