Linked Data
ClinVar Variation Id:
1130019
ClinVar RCV Id:
RCV001463363
dbSNP Id:
rs768454654
ExAC:
1:17354265 G / A
gnomAD v2:
1-17354265-G-A
gnomAD v4:
1-17027770-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17027770G>A , CM000663.2:g.17027770G>A | GRCh38 |
| NC_000001.10:g.17354265G>A , CM000663.1:g.17354265G>A | GRCh37 |
| NC_000001.9:g.17226852G>A | NCBI36 |
| NG_012340.1:g.31401C>T , LRG_316:g.31401C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.348C>T | ENSP00000481376.2:p.Ser116= | |
| ENST00000491274.6:c.477C>T | ENSP00000480482.2:p.Ser159= | |
| ENST00000375499.8:c.519C>T MANE Select | ENSP00000364649.3:p.Ser173= | |
| ENST00000375499.7:c.519C>T | ENSP00000364649.3:p.Ser173= | |
| ENST00000463045.2:c.348C>T | ENSP00000481376.1:p.Ser116= | |
| ENST00000475506.1:n.436C>T | ||
| ENST00000485515.5:n.453C>T | ||
| ENST00000491274.5:c.477C>T | ENSP00000480482.1:p.Ser159= | |
| NM_003000.2:c.519C>T , LRG_316t1:c.519C>T | NP_002991.2:p.Ser173= | |
| NM_003000.3:c.519C>T MANE Select | NP_002991.2:p.Ser173= |