Linked Data
ClinVar Variation Id:
2477182
ClinVar RCV Id:
RCV003203650
dbSNP Id:
rs782232746
ExAC:
1:147380421 G / C
gnomAD v2:
1-147380421-G-C
gnomAD v3:
1-147908294-G-C
gnomAD v4:
1-147908294-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.147908294G>C , CM000663.2:g.147908294G>C | GRCh38 |
| NC_000001.10:g.147380421G>C , CM000663.1:g.147380421G>C | GRCh37 |
| NC_000001.9:g.145847045G>C | NCBI36 |
| NG_016242.1:g.10476G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369235.2:c.339G>C MANE Select | ENSP00000358238.1:p.Glu113Asp | |
| ENST00000369235.1:c.339G>C | ENSP00000358238.1:p.Glu113Asp | |
| NM_005267.4:c.339G>C | NP_005258.2:p.Glu113Asp | |
| XM_011509416.1:c.339G>C | XP_011507718.1:p.Glu113Asp | |
| XM_011509417.1:c.339G>C | XP_011507719.1:p.Glu113Asp | |
| XM_011509417.2:c.339G>C | XP_011507719.1:p.Glu113Asp | |
| XR_002956281.1:n.1254G>C | ||
| NM_005267.5:c.339G>C MANE Select | NP_005258.2:p.Glu113Asp |