Linked Data
dbSNP Id:
rs372883965
gnomAD v2:
19-39068889-G-A
gnomAD v3:
19-38578249-G-A
gnomAD v4:
19-38578249-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38578249G>A , CM000681.2:g.38578249G>A | GRCh38 |
| NC_000019.9:g.39068889G>A , CM000681.1:g.39068889G>A | GRCh37 |
| NC_000019.8:g.43760729G>A | NCBI36 |
| NG_008866.1:g.149550G>A , LRG_766:g.149550G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.1300+45G>A | ||
| ENST00000688602.1:c.2697+45G>A | ||
| ENST00000689936.1:c.2669+45G>A | ||
| ENST00000359596.8:c.14364+45G>A MANE Select | ENSP00000352608.2:n.14364+45G>A | |
| ENST00000355481.8:c.14349+45G>A | ENSP00000347667.3:n.14349+45G>A | |
| ENST00000359596.7:c.14364+45G>A | ENSP00000352608.2:n.14364+45G>A | |
| ENST00000360985.7:c.14346+45G>A | ENSP00000354254.4:n.14346+45G>A | |
| NM_000540.2:c.14364+45G>A , LRG_766t1:c.14364+45G>A | NP_000531.2:n.14364+45G>A | |
| NM_001042723.1:c.14349+45G>A | NP_001036188.1:n.14349+45G>A | |
| XM_006723317.1:c.14346+45G>A | XP_006723380.1:n.14346+45G>A | |
| XM_006723319.1:c.14331+45G>A | XP_006723382.1:n.14331+45G>A | |
| XM_011527204.1:c.14361+45G>A | XP_011525506.1:n.14361+45G>A | |
| XM_011527205.1:c.14277+45G>A | XP_011525507.1:n.14277+45G>A | |
| XM_006723317.2:c.14346+45G>A | XP_006723380.1:n.14346+45G>A | |
| XM_006723319.2:c.14331+45G>A | XP_006723382.1:n.14331+45G>A | |
| XM_011527205.2:c.14277+45G>A | XP_011525507.1:n.14277+45G>A | |
| NM_000540.3:c.14364+45G>A MANE Select | NP_000531.2:n.14364+45G>A | |
| NM_001042723.2:c.14349+45G>A | NP_001036188.1:n.14349+45G>A |