Linked Data
ClinVar Variation Id:
458481
ClinVar RCV Id:
RCV000540193
dbSNP Id:
rs771261660
ExAC:
8:31030575 A / C
gnomAD v2:
8-31030575-A-C
gnomAD v4:
8-31173059-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31173059A>C , CM000670.2:g.31173059A>C | GRCh38 |
| NC_000008.10:g.31030575A>C , CM000670.1:g.31030575A>C | GRCh37 |
| NC_000008.9:g.31150117A>C | NCBI36 |
| NG_008870.1:g.144798A>C , LRG_524:g.144798A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.4256A>C MANE Select | ENSP00000298139.5:p.Lys1419Thr | |
| ENST00000650667.1:c.*3870A>C | ENSP00000498593.1:n.*3870A>C | |
| ENST00000651946.1:n.480A>C | ||
| ENST00000298139.5:c.4256A>C | ENSP00000298139.5:p.Lys1419Thr | |
| ENST00000521620.5:n.2889A>C | ||
| NM_000553.4:c.4256A>C , LRG_524t1:c.4256A>C | NP_000544.2:p.Lys1419Thr | |
| XM_011544639.1:c.4175A>C | XP_011542941.1:p.Lys1392Thr | |
| XM_011544640.1:c.2657A>C | XP_011542942.1:p.Lys886Thr | |
| XR_949643.1:n.88-1741T>G | ||
| XR_949644.1:n.88-1741T>G | ||
| XR_949645.1:n.88-1741T>G | ||
| XR_949646.1:n.88-1741T>G | ||
| XR_949647.1:n.701-1741T>G | ||
| XR_949648.1:n.603-1741T>G | ||
| NM_000553.5:c.4256A>C | NP_000544.2:p.Lys1419Thr | |
| XM_011544639.3:c.4175A>C | XP_011542941.1:p.Lys1392Thr | |
| XM_024447265.1:c.4046A>C | XP_024303033.1:p.Lys1349Thr | |
| NM_000553.6:c.4256A>C MANE Select | NP_000544.2:p.Lys1419Thr |