Linked Data
dbSNP Id:
rs776914215
ExAC:
19:39034341 G / T
gnomAD v2:
19-39034341-G-T
gnomAD v3:
19-38543701-G-T
gnomAD v4:
19-38543701-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38543701G>T , CM000681.2:g.38543701G>T | GRCh38 |
| NC_000019.9:g.39034341G>T , CM000681.1:g.39034341G>T | GRCh37 |
| NC_000019.8:g.43726181G>T | NCBI36 |
| NG_008866.1:g.115002G>T , LRG_766:g.115002G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688602.1:c.317+41G>T | ||
| ENST00000689936.1:c.299+41G>T | ||
| ENST00000359596.8:c.11907+41G>T MANE Select | ENSP00000352608.2:n.11907+41G>T | |
| ENST00000355481.8:c.11892+41G>T | ENSP00000347667.3:n.11892+41G>T | |
| ENST00000359596.7:c.11907+41G>T | ENSP00000352608.2:n.11907+41G>T | |
| ENST00000360985.7:c.11889+41G>T | ENSP00000354254.4:n.11889+41G>T | |
| ENST00000593322.1:c.516+41G>T | ||
| ENST00000594335.5:c.5276+41G>T | ||
| NM_000540.2:c.11907+41G>T , LRG_766t1:c.11907+41G>T | NP_000531.2:n.11907+41G>T | |
| NM_001042723.1:c.11892+41G>T | NP_001036188.1:n.11892+41G>T | |
| XM_006723317.1:c.11889+41G>T | XP_006723380.1:n.11889+41G>T | |
| XM_006723319.1:c.11874+41G>T | XP_006723382.1:n.11874+41G>T | |
| XM_011527204.1:c.11904+41G>T | XP_011525506.1:n.11904+41G>T | |
| XM_011527205.1:c.11907+41G>T | XP_011525507.1:n.11907+41G>T | |
| XM_006723317.2:c.11889+41G>T | XP_006723380.1:n.11889+41G>T | |
| XM_006723319.2:c.11874+41G>T | XP_006723382.1:n.11874+41G>T | |
| XM_011527205.2:c.11907+41G>T | XP_011525507.1:n.11907+41G>T | |
| NM_000540.3:c.11907+41G>T MANE Select | NP_000531.2:n.11907+41G>T | |
| NM_001042723.2:c.11892+41G>T | NP_001036188.1:n.11892+41G>T |