Linked Data
ClinVar Variation Id:
2848202
ClinVar RCV Id:
RCV003632067
dbSNP Id:
rs750695521
ExAC:
17:48271778 G / A
gnomAD v2:
17-48271778-G-A
gnomAD v3:
17-50194417-G-A
gnomAD v4:
17-50194417-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50194417G>A , CM000679.2:g.50194417G>A | GRCh38 |
| NC_000017.10:g.48271778G>A , CM000679.1:g.48271778G>A | GRCh37 |
| NC_000017.9:g.45626777G>A | NCBI36 |
| NG_007400.1:g.12223C>T , LRG_1:g.12223C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.1546C>T MANE Select | ENSP00000225964.6:p.Pro516Ser | |
| ENST00000225964.9:c.1546C>T | ENSP00000225964.5:p.Pro516Ser | |
| ENST00000471344.1:n.490C>T | ||
| NM_000088.3:c.1546C>T , LRG_1t1:c.1546C>T | NP_000079.2:p.Pro516Ser | |
| XM_005257058.3:c.1546C>T | XP_005257115.2:p.Pro516Ser | |
| XM_005257059.3:c.958-1724C>T | XP_005257116.2:n.958-1724C>T | |
| XM_011524341.1:c.1348C>T | XP_011522643.1:p.Pro450Ser | |
| XM_005257058.4:c.1546C>T | XP_005257115.2:p.Pro516Ser | |
| XM_005257059.4:c.958-1724C>T | XP_005257116.2:n.958-1724C>T | |
| NM_000088.4:c.1546C>T MANE Select | NP_000079.2:p.Pro516Ser |