Linked Data
ClinVar Variation Id:
2590989
ClinVar RCV Id:
RCV003353569
dbSNP Id:
rs149980128
ExAC:
1:147380121 G / C
gnomAD v2:
1-147380121-G-C
gnomAD v3:
1-147907994-G-C
gnomAD v4:
1-147907994-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.147907994G>C , CM000663.2:g.147907994G>C | GRCh38 |
| NC_000001.10:g.147380121G>C , CM000663.1:g.147380121G>C | GRCh37 |
| NC_000001.9:g.145846745G>C | NCBI36 |
| NG_016242.1:g.10176G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369235.2:c.39G>C MANE Select | ENSP00000358238.1:p.Glu13Asp | |
| ENST00000369235.1:c.39G>C | ENSP00000358238.1:p.Glu13Asp | |
| NM_005267.4:c.39G>C | NP_005258.2:p.Glu13Asp | |
| XM_011509416.1:c.39G>C | XP_011507718.1:p.Glu13Asp | |
| XM_011509417.1:c.39G>C | XP_011507719.1:p.Glu13Asp | |
| XM_011509417.2:c.39G>C | XP_011507719.1:p.Glu13Asp | |
| XR_002956281.1:n.954G>C | ||
| NM_005267.5:c.39G>C MANE Select | NP_005258.2:p.Glu13Asp |