Linked Data
ClinVar Variation Id:
254101
ClinVar RCV Id:
RCV000240299
RCV000482527
RCV001174498
RCV001158265
RCV001820794
RCV002518552
RCV004547625
dbSNP Id:
rs74726213
ExAC:
6:100838419 C / G
gnomAD v2:
6-100838419-C-G
gnomAD v3:
6-100390543-C-G
gnomAD v4:
6-100390543-C-G
PubMed:
PMID:28299356
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.100390543C>G , CM000668.2:g.100390543C>G | GRCh38 |
| NC_000006.11:g.100838419C>G , CM000668.1:g.100838419C>G | GRCh37 |
| NC_000006.10:g.100945140C>G | NCBI36 |
| NG_008230.1:g.78133G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369208.8:c.2119G>C MANE Select | ENSP00000358210.4:p.Asp707His | |
| ENST00000262901.4:c.2119G>C | ENSP00000262901.4:p.Asp707His | |
| ENST00000369208.7:c.2119G>C | ENSP00000358210.3:p.Asp707His | |
| NM_005068.2:c.2119G>C | NP_005059.2:p.Asp707His | |
| XM_005267100.2:c.2119G>C | XP_005267157.1:p.Asp707His | |
| XM_017011197.1:c.2119G>C | XP_016866686.1:p.Asp707His | |
| NM_001374769.1:c.2119G>C | NP_001361698.1:p.Asp707His | |
| NM_005068.3:c.2119G>C MANE Select | NP_005059.2:p.Asp707His |