Linked Data
ClinVar Variation Id:
412467
ClinVar RCV Id:
RCV000477025
dbSNP Id:
rs763008243
ExAC:
1:17354321 G / A
gnomAD v2:
1-17354321-G-A
gnomAD v4:
1-17027826-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17027826G>A , CM000663.2:g.17027826G>A | GRCh38 |
| NC_000001.10:g.17354321G>A , CM000663.1:g.17354321G>A | GRCh37 |
| NC_000001.9:g.17226908G>A | NCBI36 |
| NG_012340.1:g.31345C>T , LRG_316:g.31345C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000463045.3:c.292C>T | ENSP00000481376.2:p.Pro98Ser | |
| ENST00000491274.6:c.421C>T | ENSP00000480482.2:p.Pro141Ser | |
| ENST00000375499.8:c.463C>T MANE Select | ENSP00000364649.3:p.Pro155Ser | |
| ENST00000375499.7:c.463C>T | ENSP00000364649.3:p.Pro155Ser | |
| ENST00000463045.2:c.292C>T | ENSP00000481376.1:p.Pro98Ser | |
| ENST00000475506.1:n.380C>T | ||
| ENST00000485515.5:n.397C>T | ||
| ENST00000491274.5:c.421C>T | ENSP00000480482.1:p.Pro141Ser | |
| NM_003000.2:c.463C>T , LRG_316t1:c.463C>T | NP_002991.2:p.Pro155Ser | |
| NM_003000.3:c.463C>T MANE Select | NP_002991.2:p.Pro155Ser |