Linked Data
dbSNP Id:
rs1167492530
gnomAD v2:
14-24709724-C-G
gnomAD v3:
14-24240518-C-G
gnomAD v4:
14-24240518-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24240518C>G , CM000676.2:g.24240518C>G | GRCh38 |
| NC_000014.8:g.24709724C>G , CM000676.1:g.24709724C>G | GRCh37 |
| NC_000014.7:g.23779564C>G | NCBI36 |
| NG_016650.1:g.7157G>C | |
| NG_054634.1:g.13102C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000557915.2:n.1265G>C | ||
| ENST00000557921.3:c.854G>C | ENSP00000453157.3:p.Arg285Thr | |
| ENST00000699682.1:n.1352G>C | ||
| ENST00000699683.1:n.1402G>C | ||
| ENST00000699684.1:c.*555G>C | ENSP00000514523.1:n.*555G>C | |
| ENST00000699685.1:n.1166G>C | ||
| ENST00000699686.1:c.755G>C | ENSP00000514524.1:p.Arg252Thr | |
| ENST00000699687.1:c.857G>C | ENSP00000514525.1:p.Arg286Thr | |
| ENST00000699688.1:n.1162G>C | ||
| ENST00000699689.1:n.1518G>C | ||
| ENST00000699690.1:n.1715G>C | ||
| ENST00000699691.1:n.1859G>C | ||
| ENST00000699693.1:n.1379G>C | ||
| ENST00000699694.1:n.1621G>C | ||
| ENST00000699695.1:c.*334G>C | ENSP00000514526.1:n.*334G>C | |
| ENST00000699696.1:n.1265G>C | ||
| ENST00000699697.1:c.962G>C | ENSP00000514527.1:p.Arg321Thr | |
| ENST00000699698.1:n.883G>C | ||
| ENST00000699699.1:n.1286G>C | ||
| ENST00000699700.1:n.1409G>C | ||
| ENST00000699701.1:c.*342G>C | ENSP00000514528.1:n.*342G>C | |
| ENST00000267415.12:c.962G>C MANE Select | ENSP00000267415.7:p.Arg321Thr | |
| ENST00000557921.2:c.854G>C | ENSP00000453157.2:p.Arg285Thr | |
| ENST00000646753.1:c.857G>C | ENSP00000494065.1:p.Arg286Thr | |
| ENST00000267415.11:c.962G>C | ENSP00000267415.7:p.Arg321Thr | |
| ENST00000399423.8:c.962G>C | ENSP00000382350.4:p.Arg321Thr | |
| ENST00000557915.1:n.81G>C | ||
| ENST00000558566.1:c.*334G>C | ENSP00000453025.1:n.*334G>C | |
| ENST00000559019.1:c.*334G>C | ENSP00000453675.1:n.*334G>C | |
| ENST00000559969.5:c.758-38G>C | ||
| ENST00000626689.2:c.*334G>C | ENSP00000486681.1:n.*334G>C | |
| NM_001099274.1:c.962G>C | NP_001092744.1:p.Arg321Thr | |
| NM_012461.2:c.962G>C | NP_036593.2:p.Arg321Thr | |
| XM_005267528.2:c.962G>C | XP_005267585.1:p.Arg321Thr | |
| XM_005267529.2:c.857G>C | XP_005267586.1:p.Arg286Thr | |
| NM_001099274.2:c.962G>C | NP_001092744.1:p.Arg321Thr | |
| NM_001363668.1:c.857G>C | NP_001350597.1:p.Arg286Thr | |
| NM_012461.3:c.962G>C | NP_036593.2:p.Arg321Thr | |
| XM_011536642.2:c.*342G>C | XP_011534944.1:n.*342G>C | |
| XM_017021216.2:c.320G>C | XP_016876705.1:p.Arg107Thr | |
| XM_017021217.1:c.320G>C | XP_016876706.1:p.Arg107Thr | |
| NM_001099274.3:c.962G>C MANE Select | NP_001092744.1:p.Arg321Thr | |
| NM_001363668.2:c.857G>C | NP_001350597.1:p.Arg286Thr |