Linked Data
ClinVar Variation Id:
133098
ClinVar RCV Id:
RCV000119571
RCV000148804
RCV000605381
RCV001249254
RCV001729396
RCV000554319
RCV002505053
dbSNP Id:
rs146876145
ExAC:
19:39076780 C / T
gnomAD v2:
19-39076780-C-T
gnomAD v3:
19-38586140-C-T
gnomAD v4:
19-38586140-C-T
COSMIC:
COSM241493
ERepo:
CA024276/MONDO:0007783/012
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38586140C>T , CM000681.2:g.38586140C>T | GRCh38 |
| NC_000019.9:g.39076780C>T , CM000681.1:g.39076780C>T | GRCh37 |
| NC_000019.8:g.43768620C>T | NCBI36 |
| NG_008866.1:g.157441C>T , LRG_766:g.157441C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.1854C>T | ||
| ENST00000688602.1:c.3251C>T | ||
| ENST00000689936.1:c.3223C>T | ||
| ENST00000692547.1:n.311C>T | ||
| ENST00000359596.8:c.14918C>T MANE Select | ENSP00000352608.2:p.Pro4973Leu | |
| ENST00000355481.8:c.14903C>T | ENSP00000347667.3:p.Pro4968Leu | |
| ENST00000359596.7:c.14918C>T | ENSP00000352608.2:p.Pro4973Leu | |
| ENST00000360985.7:c.14900C>T | ENSP00000354254.4:p.Pro4967Leu | |
| NM_000540.2:c.14918C>T , LRG_766t1:c.14918C>T | NP_000531.2:p.Pro4973Leu | |
| NM_001042723.1:c.14903C>T | NP_001036188.1:p.Pro4968Leu | |
| XM_006723317.1:c.14900C>T | XP_006723380.1:p.Pro4967Leu | |
| XM_006723319.1:c.14885C>T | XP_006723382.1:p.Pro4962Leu | |
| XM_011527204.1:c.14915C>T | XP_011525506.1:p.Pro4972Leu | |
| XM_011527205.1:c.14831C>T | XP_011525507.1:p.Pro4944Leu | |
| XM_006723317.2:c.14900C>T | XP_006723380.1:p.Pro4967Leu | |
| XM_006723319.2:c.14885C>T | XP_006723382.1:p.Pro4962Leu | |
| XM_011527205.2:c.14831C>T | XP_011525507.1:p.Pro4944Leu | |
| NM_000540.3:c.14918C>T MANE Select | NP_000531.2:p.Pro4973Leu | |
| NM_001042723.2:c.14903C>T | NP_001036188.1:p.Pro4968Leu |