Linked Data
ClinVar Variation Id:
326079
dbSNP Id:
rs78320653
ExAC:
17:8137863 C / T
gnomAD v2:
17-8137863-C-T
gnomAD v3:
17-8234545-C-T
gnomAD v4:
17-8234545-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8234545C>T , CM000679.2:g.8234545C>T | GRCh38 |
| NC_000017.10:g.8137863C>T , CM000679.1:g.8137863C>T | GRCh37 |
| NC_000017.9:g.8078588C>T | NCBI36 |
| NG_032148.1:g.18551G>A | |
| NG_032148.2:g.18551G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000580299.2:c.1728G>A | ENSP00000462607.2:p.Pro576= | |
| ENST00000581729.2:c.1728G>A | ENSP00000462720.2:p.Pro576= | |
| ENST00000581967.2:n.1750G>A | ||
| ENST00000583254.2:n.2004G>A | ||
| ENST00000699849.1:c.831G>A | ENSP00000514647.1:p.Pro277= | |
| ENST00000699850.1:n.991G>A | ||
| ENST00000699851.1:n.1750G>A | ||
| ENST00000699852.1:c.1728G>A | ENSP00000514648.1:p.Pro576= | |
| ENST00000699853.1:c.1728G>A | ENSP00000514649.1:p.Pro576= | |
| ENST00000699854.1:n.1521G>A | ||
| ENST00000699855.1:n.1750G>A | ||
| ENST00000699856.1:c.1728G>A | ENSP00000514650.1:p.Pro576= | |
| ENST00000699857.1:n.1736G>A | ||
| ENST00000699858.1:c.*341G>A | ENSP00000514651.1:n.*341G>A | |
| ENST00000699859.1:c.1599G>A | ENSP00000514652.1:p.Pro533= | |
| ENST00000699861.1:n.1750G>A | ||
| ENST00000699862.1:n.1834G>A | ||
| ENST00000449476.7:c.1623G>A | ENSP00000396018.2:p.Pro541= | |
| ENST00000581671.2:n.1569G>A | ||
| ENST00000643543.1:c.*341G>A | ENSP00000494323.1:n.*341G>A | |
| ENST00000651323.1:c.1728G>A MANE Select | ENSP00000498499.1:p.Pro576= | |
| ENST00000315684.12:c.1728G>A | ENSP00000313759.8:p.Pro576= | |
| ENST00000449476.6:c.1623G>A | ENSP00000396018.2:p.Pro541= | |
| ENST00000581967.1:n.131G>A | ||
| ENST00000583254.1:n.258G>A | ||
| NM_025099.5:c.1728G>A | NP_079375.3:p.Pro576= | |
| NR_046431.1:n.1682G>A | ||
| XM_006721577.2:c.1599G>A | XP_006721640.1:p.Pro533= | |
| XM_006721578.2:c.1728G>A | XP_006721641.1:p.Pro576= | |
| XM_006721579.2:c.1728G>A | XP_006721642.1:p.Pro576= | |
| XM_011524010.1:c.1623G>A | XP_011522312.1:p.Pro541= | |
| XM_011524011.1:c.831G>A | XP_011522313.1:p.Pro277= | |
| XR_429823.2:n.1771G>A | ||
| XR_429824.2:n.1771G>A | ||
| XR_429825.1:n.1771G>A | ||
| NM_025099.6:c.1728G>A MANE Select | NP_079375.3:p.Pro576= | |
| XM_006721577.3:c.1599G>A | XP_006721640.1:p.Pro533= | |
| XM_006721578.3:c.1728G>A | XP_006721641.1:p.Pro576= | |
| XM_011524010.2:c.1623G>A | XP_011522312.1:p.Pro541= | |
| XM_011524011.2:c.831G>A | XP_011522313.1:p.Pro277= | |
| XR_001752639.1:n.1642G>A | ||
| XR_001752640.1:n.1771G>A | ||
| XR_001752641.1:n.1771G>A | ||
| XR_001752642.1:n.1771G>A | ||
| XR_001752643.1:n.1771G>A | ||
| XR_001752644.1:n.1771G>A | ||
| XR_002958073.1:n.1771G>A | ||
| XR_429823.3:n.1771G>A | ||
| XR_429824.3:n.1771G>A | ||
| NR_046431.2:n.1643G>A |