Linked Data
ClinVar Variation Id:
456506
ClinVar RCV Id:
RCV000554504
dbSNP Id:
rs1049817296
gnomAD v2:
1-100382219-G-A
gnomAD v3:
1-99916663-G-A
gnomAD v4:
1-99916663-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.99916663G>A , CM000663.2:g.99916663G>A | GRCh38 |
| NC_000001.10:g.100382219G>A , CM000663.1:g.100382219G>A | GRCh37 |
| NC_000001.9:g.100154807G>A | NCBI36 |
| NG_012865.1:g.71580G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361915.8:c.4413G>A MANE Select | ENSP00000355106.3:p.Pro1471= | |
| ENST00000637337.1:n.4624G>A | ||
| ENST00000294724.8:c.4413G>A | ENSP00000294724.4:p.Pro1471= | |
| ENST00000361302.7:c.4365G>A | ENSP00000354971.3:p.Pro1455= | |
| ENST00000361522.4:c.4362G>A | ENSP00000354635.4:p.Pro1454= | |
| ENST00000361915.7:c.4413G>A | ENSP00000355106.3:p.Pro1471= | |
| ENST00000370161.6:c.4365G>A | ENSP00000359180.2:p.Pro1455= | |
| ENST00000370163.7:c.4413G>A | ENSP00000359182.3:p.Pro1471= | |
| ENST00000370165.7:c.4413G>A | ENSP00000359184.3:p.Pro1471= | |
| NM_000028.2:c.4413G>A | NP_000019.2:p.Pro1471= | |
| NM_000642.2:c.4413G>A | NP_000633.2:p.Pro1471= | |
| NM_000643.2:c.4413G>A | NP_000634.2:p.Pro1471= | |
| NM_000644.2:c.4413G>A | NP_000635.2:p.Pro1471= | |
| NM_000645.2:c.4362G>A | NP_000636.2:p.Pro1454= | |
| NM_000646.2:c.4365G>A | NP_000637.2:p.Pro1455= | |
| XM_005270557.1:c.4413G>A | XP_005270614.1:p.Pro1471= | |
| XR_947626.1:n.1318-3446C>T | ||
| XR_947627.1:n.1207-3446C>T | ||
| XR_947628.1:n.1312-3446C>T | ||
| XR_947630.1:n.1250-3446C>T | ||
| XR_947632.1:n.1136-3446C>T | ||
| XR_947633.1:n.1247-3446C>T | ||
| XR_947634.1:n.661-3446C>T | ||
| XR_947635.1:n.729-3446C>T | ||
| XM_005270557.2:c.4413G>A | XP_005270614.1:p.Pro1471= | |
| XM_017000501.2:c.2673G>A | XP_016855990.1:p.Pro891= | |
| NM_000642.3:c.4413G>A MANE Select | NP_000633.2:p.Pro1471= |