Linked Data
ClinVar Variation Id:
137164
ClinVar RCV Id:
RCV001182478
dbSNP Id:
rs587780928
ExAC:
18:29116232 C / T
gnomAD v2:
18-29116232-C-T
gnomAD v3:
18-31536269-C-T
gnomAD v4:
18-31536269-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31536269C>T , CM000680.2:g.31536269C>T | GRCh38 |
| NC_000018.9:g.29116232C>T , CM000680.1:g.29116232C>T | GRCh37 |
| NC_000018.8:g.27370230C>T | NCBI36 |
| NG_007072.3:g.43028C>T , LRG_397:g.43028C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261590.13:c.1491C>T MANE Select | ENSP00000261590.8:p.Pro497= | |
| ENST00000261590.12:c.1491C>T | ENSP00000261590.8:p.Pro497= | |
| NM_001943.3:c.1491C>T , LRG_397t1:c.1491C>T | NP_001934.2:p.Pro497= | |
| NM_001943.4:c.1491C>T | NP_001934.2:p.Pro497= | |
| XM_024451095.1:c.957C>T | XP_024306863.1:p.Pro319= | |
| NM_001943.5:c.1491C>T MANE Select | NP_001934.2:p.Pro497= |