Linked Data
dbSNP Id:
rs1308506360
gnomAD v2:
19-36223391-G-C
gnomAD v3:
19-35732490-G-C
gnomAD v4:
19-35732490-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35732490G>C , CM000681.2:g.35732490G>C | GRCh38 |
| NC_000019.9:g.36223391G>C , CM000681.1:g.36223391G>C | GRCh37 |
| NC_000019.8:g.40915231G>C | NCBI36 |
| NG_052906.1:g.19472G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592092.2:n.247G>C | ||
| ENST00000673918.2:c.5875G>C | ENSP00000501283.1:p.Glu1959Gln | |
| ENST00000674114.2:c.3482G>C | ENSP00000501039.2:n.3482G>C | |
| ENST00000684977.1:c.1159G>C | ENSP00000509384.1:p.Glu387Gln | |
| ENST00000689544.1:n.1094G>C | ||
| ENST00000691421.1:c.1162G>C | ENSP00000508674.1:p.Glu388Gln | |
| ENST00000691855.1:c.5483G>C | ||
| ENST00000692961.1:c.5941G>C | ENSP00000509289.1:p.Glu1981Gln | |
| ENST00000693677.1:c.704+161G>C | ENSP00000509779.1:n.704+161G>C | |
| ENST00000420124.4:c.5941G>C MANE Select | ENSP00000398837.2:p.Glu1981Gln | |
| ENST00000673918.1:c.5875G>C | ENSP00000501283.1:p.Glu1959Gln | |
| ENST00000674114.1:c.3263G>C | ||
| ENST00000420124.2:c.5941G>C | ENSP00000398837.1:p.Glu1981Gln | |
| NM_014727.2:c.5941G>C | NP_055542.1:p.Glu1981Gln | |
| XM_011527561.1:c.5875G>C | XP_011525863.1:p.Glu1959Gln | |
| XM_011527562.1:c.5941G>C | XP_011525864.1:p.Glu1981Gln | |
| XM_011527563.1:c.5665G>C | XP_011525865.1:p.Glu1889Gln | |
| XM_011527561.2:c.5377G>C | XP_011525863.2:p.Glu1793Gln | |
| XM_011527562.2:c.5941G>C | XP_011525864.1:p.Glu1981Gln | |
| XM_017027544.1:c.5941G>C | XP_016883033.1:p.Glu1981Gln | |
| XM_017027545.1:c.5377G>C | XP_016883034.1:p.Glu1793Gln | |
| XM_017027546.1:c.2905G>C | XP_016883035.1:p.Glu969Gln | |
| NM_014727.3:c.5941G>C MANE Select | NP_055542.1:p.Glu1981Gln |