Linked Data
ClinVar Variation Id:
1412883
ClinVar RCV Id:
RCV002556342
dbSNP Id:
rs2149354363
gnomAD v4:
1-237784294-G-A
MyVariant Identifiers:
chr1:g.237947594G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.237784294G>A , CM000663.2:g.237784294G>A | GRCh38 |
| NC_000001.10:g.237947594G>A , CM000663.1:g.237947594G>A | GRCh37 |
| NC_000001.9:g.236014217G>A | NCBI36 |
| NG_008799.2:g.746893G>A | |
| NG_008799.3:g.747111G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609119.2:c.*3674G>A | ENSP00000499659.2:n.*3674G>A | |
| ENST00000659194.3:c.12570G>A | ENSP00000499653.3:p.Glu4190= | |
| ENST00000660292.2:c.12603G>A | ENSP00000499787.2:p.Glu4201= | |
| ENST00000659194.2:c.4759G>A | ||
| ENST00000366574.7:c.12582G>A MANE Select | ENSP00000355533.2:p.Glu4194= | |
| ENST00000659194.1:c.4759G>A | ||
| ENST00000660292.1:c.2635G>A | ||
| ENST00000360064.7:c.12534G>A | ENSP00000353174.7:p.Glu4178= | |
| ENST00000366574.6:c.12582G>A | ENSP00000355533.2:p.Glu4194= | |
| ENST00000609119.1:n.3777G>A | ||
| NM_001035.2:c.12582G>A | NP_001026.2:p.Glu4194= | |
| XM_006711802.2:c.12636G>A | XP_006711865.1:p.Glu4212= | |
| XM_006711803.2:c.12633G>A | XP_006711866.1:p.Glu4211= | |
| XM_006711804.2:c.12612G>A | XP_006711867.1:p.Glu4204= | |
| XM_006711805.2:c.12606G>A | XP_006711868.1:p.Glu4202= | |
| XM_006711806.2:c.12600G>A | XP_006711869.1:p.Glu4200= | |
| XM_006711807.2:c.12576G>A | XP_006711870.1:p.Glu4192= | |
| XM_006711808.2:c.12399G>A | XP_006711871.1:p.Glu4133= | |
| XM_006711810.2:c.12543G>A | XP_006711873.1:p.Glu4181= | |
| XM_006711802.3:c.12636G>A | XP_006711865.1:p.Glu4212= | |
| XM_006711803.3:c.12633G>A | XP_006711866.1:p.Glu4211= | |
| XM_006711804.3:c.12612G>A | XP_006711867.1:p.Glu4204= | |
| XM_006711805.3:c.12606G>A | XP_006711868.1:p.Glu4202= | |
| XM_006711806.3:c.12600G>A | XP_006711869.1:p.Glu4200= | |
| XM_006711807.3:c.12576G>A | XP_006711870.1:p.Glu4192= | |
| XM_006711808.3:c.12399G>A | XP_006711871.1:p.Glu4133= | |
| XM_006711810.3:c.12543G>A | XP_006711873.1:p.Glu4181= | |
| XM_017002028.1:c.12615G>A | XP_016857517.1:p.Glu4205= | |
| NM_001035.3:c.12582G>A MANE Select | NP_001026.2:p.Glu4194= |