Linked Data
dbSNP Id:
rs149375623
ExAC:
14:24709773 T / C
gnomAD v2:
14-24709773-T-C
gnomAD v3:
14-24240567-T-C
gnomAD v4:
14-24240567-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24240567T>C , CM000676.2:g.24240567T>C | GRCh38 |
| NC_000014.8:g.24709773T>C , CM000676.1:g.24709773T>C | GRCh37 |
| NC_000014.7:g.23779613T>C | NCBI36 |
| NG_016650.1:g.7108A>G | |
| NG_054634.1:g.13151T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557915.2:n.1216A>G | ||
| ENST00000557921.3:c.805A>G | ENSP00000453157.3:p.Ser269Gly | |
| ENST00000699682.1:n.1303A>G | ||
| ENST00000699683.1:n.1353A>G | ||
| ENST00000699684.1:c.*506A>G | ENSP00000514523.1:n.*506A>G | |
| ENST00000699685.1:n.1117A>G | ||
| ENST00000699686.1:c.706A>G | ENSP00000514524.1:p.Ser236Gly | |
| ENST00000699687.1:c.808A>G | ENSP00000514525.1:p.Ser270Gly | |
| ENST00000699688.1:n.1113A>G | ||
| ENST00000699689.1:n.1469A>G | ||
| ENST00000699690.1:n.1666A>G | ||
| ENST00000699691.1:n.1810A>G | ||
| ENST00000699693.1:n.1330A>G | ||
| ENST00000699694.1:n.1572A>G | ||
| ENST00000699695.1:c.*285A>G | ENSP00000514526.1:n.*285A>G | |
| ENST00000699696.1:n.1216A>G | ||
| ENST00000699697.1:c.913A>G | ENSP00000514527.1:p.Ser305Gly | |
| ENST00000699698.1:n.834A>G | ||
| ENST00000699699.1:n.1237A>G | ||
| ENST00000699700.1:n.1360A>G | ||
| ENST00000699701.1:c.*293A>G | ENSP00000514528.1:n.*293A>G | |
| ENST00000267415.12:c.913A>G MANE Select | ENSP00000267415.7:p.Ser305Gly | |
| ENST00000557921.2:c.805A>G | ENSP00000453157.2:p.Ser269Gly | |
| ENST00000646753.1:c.808A>G | ENSP00000494065.1:p.Ser270Gly | |
| ENST00000267415.11:c.913A>G | ENSP00000267415.7:p.Ser305Gly | |
| ENST00000399423.8:c.913A>G | ENSP00000382350.4:p.Ser305Gly | |
| ENST00000557915.1:n.32A>G | ||
| ENST00000558566.1:c.*285A>G | ENSP00000453025.1:n.*285A>G | |
| ENST00000559019.1:c.*285A>G | ENSP00000453675.1:n.*285A>G | |
| ENST00000559969.5:c.758-87A>G | ||
| ENST00000626689.2:c.*285A>G | ENSP00000486681.1:n.*285A>G | |
| NM_001099274.1:c.913A>G | NP_001092744.1:p.Ser305Gly | |
| NM_012461.2:c.913A>G | NP_036593.2:p.Ser305Gly | |
| XM_005267528.2:c.913A>G | XP_005267585.1:p.Ser305Gly | |
| XM_005267529.2:c.808A>G | XP_005267586.1:p.Ser270Gly | |
| NM_001099274.2:c.913A>G | NP_001092744.1:p.Ser305Gly | |
| NM_001363668.1:c.808A>G | NP_001350597.1:p.Ser270Gly | |
| NM_012461.3:c.913A>G | NP_036593.2:p.Ser305Gly | |
| XM_011536642.2:c.*293A>G | XP_011534944.1:n.*293A>G | |
| XM_017021216.2:c.271A>G | XP_016876705.1:p.Ser91Gly | |
| XM_017021217.1:c.271A>G | XP_016876706.1:p.Ser91Gly | |
| NM_001099274.3:c.913A>G MANE Select | NP_001092744.1:p.Ser305Gly | |
| NM_001363668.2:c.808A>G | NP_001350597.1:p.Ser270Gly |