Linked Data
ClinVar Variation Id:
199242
ClinVar RCV Id:
RCV000180763
RCV000272964
RCV000308235
RCV000365160
RCV000400439
RCV000542341
RCV001080447
dbSNP Id:
rs140808099
ExAC:
19:39066551 C / G
gnomAD v2:
19-39066551-C-G
gnomAD v3:
19-38575911-C-G
gnomAD v4:
19-38575911-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38575911C>G , CM000681.2:g.38575911C>G | GRCh38 |
| NC_000019.9:g.39066551C>G , CM000681.1:g.39066551C>G | GRCh37 |
| NC_000019.8:g.43758391C>G | NCBI36 |
| NG_008866.1:g.147212C>G , LRG_766:g.147212C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.1066-8C>G | ||
| ENST00000688602.1:c.2463-8C>G | ||
| ENST00000689936.1:c.2435-8C>G | ||
| ENST00000359596.8:c.14130-8C>G MANE Select | ENSP00000352608.2:n.14130-8C>G | |
| ENST00000355481.8:c.14115-8C>G | ENSP00000347667.3:n.14115-8C>G | |
| ENST00000359596.7:c.14130-8C>G | ENSP00000352608.2:n.14130-8C>G | |
| ENST00000360985.7:c.14112-8C>G | ENSP00000354254.4:n.14112-8C>G | |
| NM_000540.2:c.14130-8C>G , LRG_766t1:c.14130-8C>G | NP_000531.2:n.14130-8C>G | |
| NM_001042723.1:c.14115-8C>G | NP_001036188.1:n.14115-8C>G | |
| XM_006723317.1:c.14112-8C>G | XP_006723380.1:n.14112-8C>G | |
| XM_006723319.1:c.14097-8C>G | XP_006723382.1:n.14097-8C>G | |
| XM_011527204.1:c.14127-8C>G | XP_011525506.1:n.14127-8C>G | |
| XM_011527205.1:c.14043-8C>G | XP_011525507.1:n.14043-8C>G | |
| XM_006723317.2:c.14112-8C>G | XP_006723380.1:n.14112-8C>G | |
| XM_006723319.2:c.14097-8C>G | XP_006723382.1:n.14097-8C>G | |
| XM_011527205.2:c.14043-8C>G | XP_011525507.1:n.14043-8C>G | |
| NM_000540.3:c.14130-8C>G MANE Select | NP_000531.2:n.14130-8C>G | |
| NM_001042723.2:c.14115-8C>G | NP_001036188.1:n.14115-8C>G |