Linked Data
ClinVar Variation Id:
2753233
ClinVar RCV Id:
RCV003504827
dbSNP Id:
rs2087567179
gnomAD v3:
17-16948790-G-A
gnomAD v4:
17-16948790-G-A
MyVariant Identifiers:
chr17:g.16852104G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16948790G>A , CM000679.2:g.16948790G>A | GRCh38 |
| NC_000017.10:g.16852104G>A , CM000679.1:g.16852104G>A | GRCh37 |
| NC_000017.9:g.16792829G>A | NCBI36 |
| NG_007281.1:g.28299C>T , LRG_120:g.28299C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261652.7:c.393C>T MANE Select | ENSP00000261652.2:p.Asp131= | |
| ENST00000261652.6:c.393C>T | ENSP00000261652.2:p.Asp131= | |
| ENST00000579315.5:c.393C>T | ENSP00000464069.1:p.Asp131= | |
| ENST00000581616.2:n.396C>T | ||
| ENST00000582931.5:n.297C>T | ||
| ENST00000583789.1:c.255C>T | ENSP00000462952.1:p.Asp85= | |
| ENST00000584950.5:c.255C>T | ENSP00000463582.1:p.Asp85= | |
| NM_012452.2:c.393C>T , LRG_120t1:c.393C>T | NP_036584.1:p.Asp131= | |
| NM_012452.3:c.393C>T MANE Select | NP_036584.1:p.Asp131= |