Linked Data
ClinVar Variation Id:
331680
ClinVar RCV Id:
RCV000390724
dbSNP Id:
rs140005003
gnomAD v3:
2-157737217-T-G
gnomAD v4:
2-157737217-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.157737217T>G , CM000664.2:g.157737217T>G | GRCh38 |
| NC_000002.11:g.158593729T>G , CM000664.1:g.158593729T>G | GRCh37 |
| NC_000002.10:g.158301975T>G | NCBI36 |
| NG_008004.1:g.142895A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000681995.1:n.1443A>C | ||
| ENST00000682025.1:c.*314A>C | ENSP00000507086.1:n.*314A>C | |
| ENST00000682300.1:c.*314A>C | ENSP00000507102.1:n.*314A>C | |
| ENST00000682690.1:n.1861A>C | ||
| ENST00000683404.1:c.*531A>C | ENSP00000506824.1:n.*531A>C | |
| ENST00000683426.1:c.*314A>C | ENSP00000507597.1:n.*314A>C | |
| ENST00000683441.1:c.*314A>C | ENSP00000508189.1:n.*314A>C | |
| ENST00000683487.1:c.*314A>C | ENSP00000507113.1:n.*314A>C | |
| ENST00000683514.1:n.3664A>C | ||
| ENST00000683820.1:c.*314A>C | ENSP00000507727.1:n.*314A>C | |
| ENST00000684104.1:n.2052A>C | ||
| ENST00000684348.1:c.*314A>C | ENSP00000508136.1:n.*314A>C | |
| ENST00000684567.1:n.1089A>C | ||
| ENST00000684595.1:c.*314A>C | ENSP00000507730.1:n.*314A>C | |
| ENST00000424669.6:c.*314A>C | ENSP00000400767.2:n.*314A>C | |
| ENST00000434821.7:c.*314A>C MANE Select | ENSP00000405004.1:n.*314A>C | |
| ENST00000539637.6:c.*314A>C | ENSP00000440091.2:n.*314A>C | |
| ENST00000672582.1:c.*314A>C | ENSP00000500605.1:n.*314A>C | |
| ENST00000673324.1:c.*314A>C | ENSP00000500109.1:n.*314A>C | |
| ENST00000263640.7:c.*314A>C | ENSP00000263640.3:n.*314A>C | |
| ENST00000409283.6:c.*314A>C | ENSP00000387273.2:n.*314A>C | |
| ENST00000434821.5:c.*314A>C | ENSP00000405004.1:n.*314A>C | |
| NM_001105.4:c.*314A>C | NP_001096.1:n.*314A>C | |
| NM_001111067.2:c.*314A>C | NP_001104537.1:n.*314A>C | |
| XM_005246939.2:c.*314A>C | XP_005246996.1:n.*314A>C | |
| XM_005246940.2:c.*314A>C | XP_005246997.1:n.*314A>C | |
| XM_006712825.2:c.*314A>C | XP_006712888.1:n.*314A>C | |
| XM_011512106.1:c.*314A>C | XP_011510408.1:n.*314A>C | |
| XM_011512107.1:c.*314A>C | XP_011510409.1:n.*314A>C | |
| XM_011512108.1:c.*314A>C | XP_011510410.1:n.*314A>C | |
| NM_001347663.1:c.*314A>C | NP_001334592.1:n.*314A>C | |
| NM_001347664.1:c.*314A>C | NP_001334593.1:n.*314A>C | |
| NM_001347665.1:c.*314A>C | NP_001334594.1:n.*314A>C | |
| NM_001347666.1:c.*314A>C | NP_001334595.1:n.*314A>C | |
| NM_001347667.1:c.*314A>C | NP_001334596.1:n.*314A>C | |
| XM_006712825.4:c.*314A>C | XP_006712888.1:n.*314A>C | |
| XM_011512108.3:c.*314A>C | XP_011510410.1:n.*314A>C | |
| NM_001105.5:c.*314A>C | NP_001096.1:n.*314A>C | |
| NM_001111067.4:c.*314A>C MANE Select | NP_001104537.1:n.*314A>C | |
| NM_001347667.2:c.*314A>C | NP_001334596.1:n.*314A>C |