Linked Data
ClinVar Variation Id:
762039
dbSNP Id:
rs1573131707
MyVariant Identifiers:
chr2:g.29449837G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29226971G>A , CM000664.2:g.29226971G>A | GRCh38 |
| NC_000002.11:g.29449837G>A , CM000664.1:g.29449837G>A | GRCh37 |
| NC_000002.10:g.29303341G>A | NCBI36 |
| NG_009445.1:g.699596C>T , LRG_488:g.699596C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3018C>T MANE Select | ENSP00000373700.3:p.Cys1006= | |
| ENST00000431873.6:c.184C>T | ||
| ENST00000389048.7:c.3018C>T | ENSP00000373700.3:p.Cys1006= | |
| ENST00000618119.4:c.1887C>T | ENSP00000482733.1:p.Cys629= | |
| NM_004304.4:c.3018C>T | NP_004295.2:p.Cys1006= | |
| XM_024452778.1:c.171C>T | XP_024308546.1:p.Cys57= | |
| XR_001738688.2:n.3874C>T | ||
| NM_004304.5:c.3018C>T MANE Select | NP_004295.2:p.Cys1006= |