Linked Data
ClinVar Variation Id:
1009125
ClinVar RCV Id:
RCV001306567
dbSNP Id:
rs749941664
ExAC:
1:215953258 C / G
gnomAD v2:
1-215953258-C-G
gnomAD v4:
1-215779916-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215779916C>G , CM000663.2:g.215779916C>G | GRCh38 |
| NC_000001.10:g.215953258C>G , CM000663.1:g.215953258C>G | GRCh37 |
| NC_000001.9:g.214019881C>G | NCBI36 |
| NG_009497.1:g.648481G>C | |
| NG_009497.2:g.648533G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.10866G>C MANE Select | ENSP00000305941.3:p.Glu3622Asp | |
| ENST00000674083.1:c.10866G>C | ENSP00000501296.1:p.Glu3622Asp | |
| ENST00000307340.7:c.10866G>C | ENSP00000305941.3:p.Glu3622Asp | |
| NM_206933.2:c.10866G>C | NP_996816.2:p.Glu3622Asp | |
| NM_206933.3:c.10866G>C | NP_996816.2:p.Glu3622Asp | |
| NM_206933.4:c.10866G>C MANE Select | NP_996816.3:p.Glu3622Asp |