Linked Data
ClinVar Variation Id:
527999
ClinVar RCV Id:
RCV000633043
dbSNP Id:
rs774647600
ExAC:
13:23904541 C / T
gnomAD v2:
13-23904541-C-T
gnomAD v4:
13-23330402-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23330402C>T , CM000675.2:g.23330402C>T | GRCh38 |
| NC_000013.10:g.23904541C>T , CM000675.1:g.23904541C>T | GRCh37 |
| NC_000013.9:g.22802541C>T | NCBI36 |
| NG_012342.1:g.108301G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2186-18287G>A | ENSP00000508399.1:n.2186-18287G>A | |
| ENST00000682944.1:c.13501G>A | ENSP00000507173.1:p.Val4501Met | |
| ENST00000683210.1:c.2185+23383G>A | ENSP00000506739.1:n.2185+23383G>A | |
| ENST00000683270.1:c.6446-918G>A | ENSP00000507624.1:n.6446-918G>A | |
| ENST00000683367.1:c.2177-918G>A | ENSP00000507780.1:n.2177-918G>A | |
| ENST00000683489.1:c.2292-450G>A | ENSP00000508403.1:n.2292-450G>A | |
| ENST00000683680.1:c.2319-450G>A | ENSP00000507223.1:n.2319-450G>A | |
| ENST00000684163.1:c.2204-918G>A | ENSP00000508262.1:n.2204-918G>A | |
| ENST00000684196.1:n.4543-918G>A | ||
| ENST00000684325.1:c.2186-8728G>A | ENSP00000508121.1:n.2186-8728G>A | |
| ENST00000684385.1:c.2221-918G>A | ENSP00000507855.1:n.2221-918G>A | |
| ENST00000684497.1:c.2186-7758G>A | ENSP00000507057.1:n.2186-7758G>A | |
| ENST00000382292.9:c.13474G>A MANE Select | ENSP00000371729.3:p.Val4492Met | |
| ENST00000423156.2:c.2186-918G>A | ENSP00000390925.2:n.2186-918G>A | |
| ENST00000455470.6:c.2432-918G>A | ENSP00000406565.2:n.2432-918G>A | |
| ENST00000382292.7:c.13474G>A | ENSP00000371729.3:p.Val4492Met | |
| ENST00000382298.7:c.13474G>A | ENSP00000371735.3:p.Val4492Met | |
| ENST00000402364.1:c.11224G>A | ENSP00000385844.1:p.Val3742Met | |
| ENST00000423156.1:c.1058-918G>A | ENSP00000390925.1:n.1058-918G>A | |
| ENST00000455470.5:c.2130-918G>A | ||
| NM_001278055.1:c.13033G>A | NP_001264984.1:p.Val4345Met | |
| NM_014363.5:c.13474G>A | NP_055178.3:p.Val4492Met | |
| XM_005266338.1:c.13501G>A | XP_005266395.1:p.Val4501Met | |
| XM_011535038.1:c.13525G>A | XP_011533340.1:p.Val4509Met | |
| XM_011535039.1:c.13492G>A | XP_011533341.1:p.Val4498Met | |
| XM_005266338.2:c.13501G>A | XP_005266395.1:p.Val4501Met | |
| XM_011535039.2:c.13492G>A | XP_011533341.1:p.Val4498Met | |
| XM_017020539.1:c.13465G>A | XP_016876028.1:p.Val4489Met | |
| XM_024449337.1:c.13501G>A | XP_024305105.1:p.Val4501Met | |
| NM_014363.6:c.13474G>A MANE Select | NP_055178.3:p.Val4492Met | |
| NM_001278055.2:c.13033G>A | NP_001264984.1:p.Val4345Met |