Linked Data
ClinVar Variation Id:
1735807
ClinVar RCV Id:
RCV002366312
gnomAD v4:
17-50199310-A-G
MyVariant Identifiers:
chr17:g.48276671A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50199310A>G , CM000679.2:g.50199310A>G | GRCh38 |
| NC_000017.10:g.48276671A>G , CM000679.1:g.48276671A>G | GRCh37 |
| NC_000017.9:g.45631670A>G | NCBI36 |
| NG_007400.1:g.7330T>C , LRG_1:g.7330T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.387T>C MANE Select | ENSP00000225964.6:p.Pro129= | |
| ENST00000225964.9:c.387T>C | ENSP00000225964.5:p.Pro129= | |
| ENST00000474644.1:n.608T>C | ||
| ENST00000507689.1:c.441T>C | ENSP00000460459.1:p.Pro147= | |
| NM_000088.3:c.387T>C , LRG_1t1:c.387T>C | NP_000079.2:p.Pro129= | |
| XM_005257058.3:c.387T>C | XP_005257115.2:p.Pro129= | |
| XM_005257059.3:c.387T>C | XP_005257116.2:p.Pro129= | |
| XM_011524341.1:c.387T>C | XP_011522643.1:p.Pro129= | |
| XM_005257058.4:c.387T>C | XP_005257115.2:p.Pro129= | |
| XM_005257059.4:c.387T>C | XP_005257116.2:p.Pro129= | |
| NM_000088.4:c.387T>C MANE Select | NP_000079.2:p.Pro129= |