Linked Data
ClinVar Variation Id:
199901
ClinVar RCV Id:
RCV000181340
RCV000766888
RCV002354472
RCV002485191
RCV000678705
RCV001179588
RCV001227095
dbSNP Id:
rs372393122
ExAC:
6:7583892 G / A
gnomAD v2:
6-7583892-G-A
gnomAD v3:
6-7583659-G-A
gnomAD v4:
6-7583659-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7583659G>A , CM000668.2:g.7583659G>A | GRCh38 |
| NC_000006.11:g.7583892G>A , CM000668.1:g.7583892G>A | GRCh37 |
| NC_000006.10:g.7528891G>A | NCBI36 |
| NG_008803.1:g.47023G>A , LRG_423:g.47023G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.5068G>A | ENSP00000518230.1:p.Gly1690Ser | |
| ENST00000379802.8:c.6397G>A MANE Select | ENSP00000369129.3:p.Gly2133Ser | |
| ENST00000379802.7:c.6397G>A | ENSP00000369129.3:p.Gly2133Ser | |
| ENST00000418664.2:c.4600G>A | ENSP00000396591.2:p.Gly1534Ser | |
| NM_001008844.1:c.4600G>A | NP_001008844.1:p.Gly1534Ser | |
| NM_004415.2:c.6397G>A , LRG_423t1:c.6397G>A | NP_004406.2:p.Gly2133Ser | |
| XM_011514323.1:c.5068G>A | XP_011512625.1:p.Gly1690Ser | |
| NM_001008844.2:c.4600G>A | NP_001008844.1:p.Gly1534Ser | |
| NM_001319034.1:c.5068G>A | NP_001305963.1:p.Gly1690Ser | |
| NM_004415.3:c.6397G>A | NP_004406.2:p.Gly2133Ser | |
| NM_004415.4:c.6397G>A MANE Select | NP_004406.2:p.Gly2133Ser | |
| NM_001008844.3:c.4600G>A | NP_001008844.1:p.Gly1534Ser | |
| NM_001319034.2:c.5068G>A | NP_001305963.1:p.Gly1690Ser |