Linked Data
ClinVar Variation Id:
1926033
ClinVar RCV Id:
RCV002626214
dbSNP Id:
rs935952447
gnomAD v2:
19-45867231-G-T
gnomAD v3:
19-45363973-G-T
gnomAD v4:
19-45363973-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45363973G>T , CM000681.2:g.45363973G>T | GRCh38 |
| NC_000019.9:g.45867231G>T , CM000681.1:g.45867231G>T | GRCh37 |
| NC_000019.8:g.50559071G>T | NCBI36 |
| NG_007067.2:g.11615C>A , LRG_461:g.11615C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.949+13C>A | ENSP00000375808.4:n.949+13C>A | |
| ENST00000682414.1:c.949+13C>A | ENSP00000507019.1:n.949+13C>A | |
| ENST00000682508.1:n.978+13C>A | ||
| ENST00000684218.1:c.*207+13C>A | ENSP00000507804.1:n.*207+13C>A | |
| ENST00000684407.1:c.826+13C>A | ENSP00000507775.1:n.826+13C>A | |
| ENST00000684458.1:c.949+13C>A | ENSP00000508260.1:n.949+13C>A | |
| ENST00000391945.10:c.949+13C>A MANE Select | ENSP00000375809.4:n.949+13C>A | |
| ENST00000587376.6:c.72+13C>A | ||
| ENST00000646507.1:n.1046+13C>A | ||
| ENST00000391941.6:c.877+13C>A | ENSP00000375805.2:n.877+13C>A | |
| ENST00000391944.7:c.715+13C>A | ENSP00000375808.3:n.715+13C>A | |
| ENST00000391945.8:c.949+13C>A | ENSP00000375809.3:n.949+13C>A | |
| ENST00000485403.6:c.877+13C>A | ENSP00000431229.2:n.877+13C>A | |
| ENST00000587376.5:c.72+13C>A | ||
| NM_000400.3:c.949+13C>A , LRG_461t1:c.949+13C>A | NP_000391.1:n.949+13C>A | |
| NM_001130867.1:c.877+13C>A | NP_001124339.1:n.877+13C>A | |
| XM_011526611.1:c.871+13C>A | XP_011524913.1:n.871+13C>A | |
| XR_935763.1:n.996+13C>A | ||
| XM_011526611.2:c.871+13C>A | XP_011524913.1:n.871+13C>A | |
| XM_017026467.1:c.826+13C>A | XP_016881956.1:n.826+13C>A | |
| XR_001753633.2:n.996+13C>A | ||
| XR_001753634.2:n.996+13C>A | ||
| NM_000400.4:c.949+13C>A MANE Select | NP_000391.1:n.949+13C>A | |
| NM_001130867.2:c.877+13C>A | NP_001124339.1:n.877+13C>A |