Linked Data
ClinVar Variation Id:
2973758
ClinVar RCV Id:
RCV003833332
dbSNP Id:
rs1025235486
gnomAD v2:
14-24709885-T-G
gnomAD v4:
14-24240679-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24240679T>G , CM000676.2:g.24240679T>G | GRCh38 |
| NC_000014.8:g.24709885T>G , CM000676.1:g.24709885T>G | GRCh37 |
| NC_000014.7:g.23779725T>G | NCBI36 |
| NG_016650.1:g.6996A>C | |
| NG_054634.1:g.13263T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557915.2:n.1104A>C | ||
| ENST00000557921.3:c.693A>C | ENSP00000453157.3:p.Arg231Ser | |
| ENST00000699682.1:n.1191A>C | ||
| ENST00000699683.1:n.1241A>C | ||
| ENST00000699684.1:c.*394A>C | ENSP00000514523.1:n.*394A>C | |
| ENST00000699685.1:n.1005A>C | ||
| ENST00000699686.1:c.594A>C | ENSP00000514524.1:p.Arg198Ser | |
| ENST00000699687.1:c.696A>C | ENSP00000514525.1:p.Arg232Ser | |
| ENST00000699688.1:n.1001A>C | ||
| ENST00000699689.1:n.1357A>C | ||
| ENST00000699690.1:n.1554A>C | ||
| ENST00000699691.1:n.1698A>C | ||
| ENST00000699693.1:n.1218A>C | ||
| ENST00000699694.1:n.1460A>C | ||
| ENST00000699695.1:c.*173A>C | ENSP00000514526.1:n.*173A>C | |
| ENST00000699696.1:n.1104A>C | ||
| ENST00000699697.1:c.801A>C | ENSP00000514527.1:p.Arg267Ser | |
| ENST00000699698.1:n.722A>C | ||
| ENST00000699699.1:n.1125A>C | ||
| ENST00000699700.1:n.1248A>C | ||
| ENST00000699701.1:c.*181A>C | ENSP00000514528.1:n.*181A>C | |
| ENST00000267415.12:c.801A>C MANE Select | ENSP00000267415.7:p.Arg267Ser | |
| ENST00000557921.2:c.693A>C | ENSP00000453157.2:p.Arg231Ser | |
| ENST00000646753.1:c.696A>C | ENSP00000494065.1:p.Arg232Ser | |
| ENST00000267415.11:c.801A>C | ENSP00000267415.7:p.Arg267Ser | |
| ENST00000399423.8:c.801A>C | ENSP00000382350.4:p.Arg267Ser | |
| ENST00000558476.5:c.363A>C | ENSP00000452724.1:p.Arg121Ser | |
| ENST00000558566.1:c.*173A>C | ENSP00000453025.1:n.*173A>C | |
| ENST00000559019.1:c.*173A>C | ENSP00000453675.1:n.*173A>C | |
| ENST00000559549.1:n.527A>C | ||
| ENST00000559969.5:c.757A>C | ||
| ENST00000626689.2:c.*173A>C | ENSP00000486681.1:n.*173A>C | |
| NM_001099274.1:c.801A>C | NP_001092744.1:p.Arg267Ser | |
| NM_012461.2:c.801A>C | NP_036593.2:p.Arg267Ser | |
| XM_005267528.2:c.801A>C | XP_005267585.1:p.Arg267Ser | |
| XM_005267529.2:c.696A>C | XP_005267586.1:p.Arg232Ser | |
| NM_001099274.2:c.801A>C | NP_001092744.1:p.Arg267Ser | |
| NM_001363668.1:c.696A>C | NP_001350597.1:p.Arg232Ser | |
| NM_012461.3:c.801A>C | NP_036593.2:p.Arg267Ser | |
| XM_011536642.2:c.*181A>C | XP_011534944.1:n.*181A>C | |
| XM_017021216.2:c.159A>C | XP_016876705.1:p.Arg53Ser | |
| XM_017021217.1:c.159A>C | XP_016876706.1:p.Arg53Ser | |
| NM_001099274.3:c.801A>C MANE Select | NP_001092744.1:p.Arg267Ser | |
| NM_001363668.2:c.696A>C | NP_001350597.1:p.Arg232Ser |