Linked Data
ClinVar Variation Id:
3212198
ClinVar RCV Id:
RCV004501134
dbSNP Id:
rs1218634086
gnomAD v2:
X-54011545-C-T
gnomAD v3:
X-53985112-C-T
gnomAD v4:
X-53985112-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53985112C>T , CM000685.2:g.53985112C>T | GRCh38 |
| NC_000023.10:g.54011545C>T , CM000685.1:g.54011545C>T | GRCh37 |
| NC_000023.9:g.54028270C>T | NCBI36 |
| NG_021309.1:g.65025G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338946.11:c.1942G>A | ENSP00000340051.7:p.Gly648Arg | |
| ENST00000396282.7:c.2245G>A | ENSP00000379578.3:p.Gly749Arg | |
| ENST00000686349.1:c.*700G>A | ENSP00000510424.1:n.*700G>A | |
| ENST00000687764.1:c.*1687G>A | ENSP00000509967.1:n.*1687G>A | |
| ENST00000691629.1:n.1609G>A | ||
| ENST00000338154.11:c.2245G>A MANE Select | ENSP00000338868.6:p.Gly749Arg | |
| ENST00000322659.12:c.2194G>A | ENSP00000319473.8:p.Gly732Arg | |
| ENST00000338154.10:c.2245G>A | ENSP00000338868.6:p.Gly749Arg | |
| ENST00000338946.10:c.1942G>A | ENSP00000340051.6:p.Gly648Arg | |
| ENST00000357988.9:c.2353G>A | ENSP00000350676.5:p.Gly785Arg | |
| ENST00000396282.6:c.1956G>A | ||
| ENST00000443302.5:c.1535G>A | ||
| ENST00000615775.4:c.672G>A | ENSP00000482159.1:p.Leu224= | |
| NM_001184896.1:c.2353G>A | NP_001171825.1:p.Gly785Arg | |
| NM_001184897.1:c.1942G>A | NP_001171826.1:p.Gly648Arg | |
| NM_001184898.1:c.2194G>A | NP_001171827.1:p.Gly732Arg | |
| NM_015107.2:c.2245G>A | NP_055922.1:p.Gly749Arg | |
| XM_005261996.1:c.2353G>A | XP_005262053.1:p.Gly785Arg | |
| XM_005261997.2:c.2245G>A | XP_005262054.1:p.Gly749Arg | |
| XM_005261999.1:c.2245G>A | XP_005262056.1:p.Gly749Arg | |
| XM_005262000.1:c.2050G>A | XP_005262057.1:p.Gly684Arg | |
| XM_006724585.1:c.2353G>A | XP_006724648.1:p.Gly785Arg | |
| XM_011530778.1:c.2353G>A | XP_011529080.1:p.Gly785Arg | |
| XM_005261997.4:c.2245G>A | XP_005262054.1:p.Gly749Arg | |
| XM_017029361.2:c.2245G>A | XP_016884850.1:p.Gly749Arg | |
| XM_017029362.2:c.2245G>A | XP_016884851.1:p.Gly749Arg | |
| NM_001184898.2:c.2194G>A | NP_001171827.1:p.Gly732Arg | |
| NM_015107.3:c.2245G>A MANE Select | NP_055922.1:p.Gly749Arg | |
| NM_001184897.2:c.1942G>A | NP_001171826.1:p.Gly648Arg |