Linked Data
ClinVar Variation Id:
748770
ClinVar RCV Id:
RCV000925591
dbSNP Id:
rs1570944785
gnomAD v4:
1-17022641-G-A
MyVariant Identifiers:
chr1:g.17349136G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17022641G>A , CM000663.2:g.17022641G>A | GRCh38 |
| NC_000001.10:g.17349136G>A , CM000663.1:g.17349136G>A | GRCh37 |
| NC_000001.9:g.17221723G>A | NCBI36 |
| NG_012340.1:g.36530C>T , LRG_316:g.36530C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.561C>T | ENSP00000481376.2:p.His187= | |
| ENST00000491274.6:c.690C>T | ENSP00000480482.2:p.His230= | |
| ENST00000375499.8:c.732C>T MANE Select | ENSP00000364649.3:p.His244= | |
| ENST00000375499.7:c.732C>T | ENSP00000364649.3:p.His244= | |
| ENST00000475049.5:n.157C>T | ||
| ENST00000485092.5:n.396C>T | ||
| ENST00000485515.5:n.666C>T | ||
| NM_003000.2:c.732C>T , LRG_316t1:c.732C>T | NP_002991.2:p.His244= | |
| NM_003000.3:c.732C>T MANE Select | NP_002991.2:p.His244= |