Linked Data
ClinVar Variation Id:
2645892
ClinVar RCV Id:
RCV003395170
dbSNP Id:
rs34598300
ExAC:
16:1392745 G / C
gnomAD v2:
16-1392745-G-C
gnomAD v3:
16-1342744-G-C
gnomAD v4:
16-1342744-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1342744G>C , CM000678.2:g.1342744G>C | GRCh38 |
| NC_000016.9:g.1392745G>C , CM000678.1:g.1392745G>C | GRCh37 |
| NC_000016.8:g.1332746G>C | NCBI36 |
| NG_033974.1:g.14140G>C | |
| NG_033974.2:g.14140G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561793.2:c.360G>C | ||
| ENST00000564213.2:c.1091G>C | ENSP00000518583.1:p.Gly364Ala | |
| ENST00000565665.6:n.1464G>C | ||
| ENST00000567203.2:n.1206G>C | ||
| ENST00000711102.1:c.1091G>C | ENSP00000518580.1:p.Gly364Ala | |
| ENST00000711103.1:c.1091G>C | ENSP00000518581.1:p.Gly364Ala | |
| ENST00000711104.1:c.1142G>C | ENSP00000518582.1:p.Gly381Ala | |
| ENST00000711105.1:c.1091G>C | ENSP00000518584.1:p.Gly364Ala | |
| ENST00000711111.1:n.1207G>C | ||
| ENST00000426824.8:c.1091G>C MANE Select | ENSP00000407242.4:p.Gly364Ala | |
| ENST00000324385.9:c.1196G>C | ENSP00000324510.5:p.Gly399Ala | |
| ENST00000397488.6:c.1142G>C | ENSP00000380625.2:p.Gly381Ala | |
| ENST00000421665.6:c.983G>C | ENSP00000409533.2:p.Gly328Ala | |
| ENST00000426824.7:c.1091G>C | ENSP00000407242.3:p.Gly364Ala | |
| ENST00000562208.5:c.1022G>C | ENSP00000458134.1:p.Gly341Ala | |
| ENST00000568887.5:c.1007G>C | ENSP00000457644.1:p.Gly336Ala | |
| ENST00000628027.2:c.1142G>C | ENSP00000487275.1:p.Gly381Ala | |
| NM_001199096.1:c.983G>C | NP_001186025.1:p.Gly328Ala | |
| NM_001199097.1:c.1091G>C | NP_001186026.1:p.Gly364Ala | |
| NM_001199098.1:c.1022G>C | NP_001186027.1:p.Gly341Ala | |
| NM_001199099.1:c.1007G>C | NP_001186028.1:p.Gly336Ala | |
| NM_001286464.1:c.1142G>C | NP_001273393.1:p.Gly381Ala | |
| NM_003933.4:c.1196G>C | NP_003924.2:p.Gly399Ala | |
| XM_011522728.1:c.1247G>C | XP_011521030.1:p.Gly416Ala | |
| XM_011522729.1:c.1247G>C | XP_011521031.1:p.Gly416Ala | |
| XM_011522730.1:c.1247G>C | XP_011521032.1:p.Gly416Ala | |
| XM_011522730.2:c.1247G>C | XP_011521032.1:p.Gly416Ala | |
| NM_001199097.2:c.1091G>C MANE Select | NP_001186026.1:p.Gly364Ala | |
| NM_001199098.2:c.1022G>C | NP_001186027.1:p.Gly341Ala | |
| NM_001199099.2:c.1007G>C | NP_001186028.1:p.Gly336Ala | |
| NM_001286464.2:c.1142G>C | NP_001273393.2:p.Gly381Ala | |
| NM_001199096.2:c.983G>C | NP_001186025.1:p.Gly328Ala | |
| NM_003933.5:c.1196G>C | NP_003924.2:p.Gly399Ala |