Linked Data
ClinVar Variation Id:
2263119
ClinVar RCV Id:
RCV004122121
dbSNP Id:
rs752053385
ExAC:
19:56089905 C / A
gnomAD v2:
19-56089905-C-A
gnomAD v3:
19-55578539-C-A
gnomAD v4:
19-55578539-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55578539C>A , CM000681.2:g.55578539C>A | GRCh38 |
| NC_000019.9:g.56089905C>A , CM000681.1:g.56089905C>A | GRCh37 |
| NC_000019.8:g.60781717C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325421.7:c.1101G>T MANE Select | ENSP00000320188.3:p.Gln367His | |
| ENST00000325421.6:c.1101G>T | ENSP00000320188.3:p.Gln367His | |
| NM_152600.2:c.1101G>T | NP_689813.2:p.Gln367His | |
| XM_011526573.1:c.1101G>T | XP_011524875.1:p.Gln367His | |
| XM_017026409.2:c.1101G>T | XP_016881898.1:p.Gln367His | |
| XM_017026410.2:c.1101G>T | XP_016881899.1:p.Gln367His | |
| XM_017026411.2:c.1101G>T | XP_016881900.1:p.Gln367His | |
| NM_152600.3:c.1101G>T MANE Select | NP_689813.2:p.Gln367His |