Linked Data
ClinVar Variation Id:
1481268
ClinVar RCV Id:
RCV002000501
dbSNP Id:
rs759845895
gnomAD v4:
2-29220744-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29220744C>G , CM000664.2:g.29220744C>G | GRCh38 |
| NC_000002.11:g.29443610C>G , CM000664.1:g.29443610C>G | GRCh37 |
| NC_000002.10:g.29297114C>G | NCBI36 |
| NG_009445.1:g.705823G>C , LRG_488:g.705823G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3607G>C MANE Select | ENSP00000373700.3:p.Asp1203His | |
| ENST00000431873.6:c.834G>C | ||
| ENST00000638605.1:n.484G>C | ||
| ENST00000642122.1:c.403G>C | ENSP00000493203.1:p.Asp135His | |
| ENST00000389048.7:c.3607G>C | ENSP00000373700.3:p.Asp1203His | |
| ENST00000431873.5:c.487G>C | ENSP00000414027.2:p.Asp163His | |
| ENST00000618119.4:c.2476G>C | ENSP00000482733.1:p.Asp826His | |
| NM_004304.4:c.3607G>C | NP_004295.2:p.Asp1203His | |
| NM_001353765.1:c.403G>C | NP_001340694.1:p.Asp135His | |
| XM_024452778.1:c.760G>C | XP_024308546.1:p.Asp254His | |
| XM_024452779.1:c.403G>C | XP_024308547.1:p.Asp135His | |
| NM_004304.5:c.3607G>C MANE Select | NP_004295.2:p.Asp1203His | |
| NM_001353765.2:c.403G>C | NP_001340694.1:p.Asp135His |