Linked Data
ClinVar Variation Id:
93255
ClinVar RCV Id:
RCV000079132
RCV000304667
RCV000259804
RCV000361747
RCV000390273
RCV000721374
RCV001082862
dbSNP Id:
rs118126378
ExAC:
19:39070762 G / A
gnomAD v2:
19-39070762-G-A
gnomAD v3:
19-38580122-G-A
gnomAD v4:
19-38580122-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38580122G>A , CM000681.2:g.38580122G>A | GRCh38 |
| NC_000019.9:g.39070762G>A , CM000681.1:g.39070762G>A | GRCh37 |
| NC_000019.8:g.43762602G>A | NCBI36 |
| NG_008866.1:g.151423G>A , LRG_766:g.151423G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.1441G>A | ||
| ENST00000688602.1:c.2838G>A | ||
| ENST00000689936.1:c.2810G>A | ||
| ENST00000359596.8:c.14505G>A MANE Select | ENSP00000352608.2:p.Gly4835= | |
| ENST00000355481.8:c.14490G>A | ENSP00000347667.3:p.Gly4830= | |
| ENST00000359596.7:c.14505G>A | ENSP00000352608.2:p.Gly4835= | |
| ENST00000360985.7:c.14487G>A | ENSP00000354254.4:p.Gly4829= | |
| NM_000540.2:c.14505G>A , LRG_766t1:c.14505G>A | NP_000531.2:p.Gly4835= | |
| NM_001042723.1:c.14490G>A | NP_001036188.1:p.Gly4830= | |
| XM_006723317.1:c.14487G>A | XP_006723380.1:p.Gly4829= | |
| XM_006723319.1:c.14472G>A | XP_006723382.1:p.Gly4824= | |
| XM_011527204.1:c.14502G>A | XP_011525506.1:p.Gly4834= | |
| XM_011527205.1:c.14418G>A | XP_011525507.1:p.Gly4806= | |
| XM_006723317.2:c.14487G>A | XP_006723380.1:p.Gly4829= | |
| XM_006723319.2:c.14472G>A | XP_006723382.1:p.Gly4824= | |
| XM_011527205.2:c.14418G>A | XP_011525507.1:p.Gly4806= | |
| NM_000540.3:c.14505G>A MANE Select | NP_000531.2:p.Gly4835= | |
| NM_001042723.2:c.14490G>A | NP_001036188.1:p.Gly4830= |