Linked Data
ClinVar Variation Id:
212092
ClinVar RCV Id:
RCV000193583
RCV000293474
RCV000337896
RCV000402166
RCV000278057
RCV000557907
RCV003996905
dbSNP Id:
rs61739895
ExAC:
19:39052058 C / T
gnomAD v2:
19-39052058-C-T
gnomAD v3:
19-38561418-C-T
gnomAD v4:
19-38561418-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38561418C>T , CM000681.2:g.38561418C>T | GRCh38 |
| NC_000019.9:g.39052058C>T , CM000681.1:g.39052058C>T | GRCh37 |
| NC_000019.8:g.43743898C>T | NCBI36 |
| NG_008866.1:g.132719C>T , LRG_766:g.132719C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688602.1:c.998C>T | ||
| ENST00000689936.1:c.980C>T | ||
| ENST00000359596.8:c.12588C>T MANE Select | ENSP00000352608.2:p.Ile4196= | |
| ENST00000355481.8:c.12573C>T | ENSP00000347667.3:p.Ile4191= | |
| ENST00000359596.7:c.12588C>T | ENSP00000352608.2:p.Ile4196= | |
| ENST00000360985.7:c.12570C>T | ENSP00000354254.4:p.Ile4190= | |
| ENST00000594335.5:c.5957C>T | ||
| NM_000540.2:c.12588C>T , LRG_766t1:c.12588C>T | NP_000531.2:p.Ile4196= | |
| NM_001042723.1:c.12573C>T | NP_001036188.1:p.Ile4191= | |
| XM_006723317.1:c.12570C>T | XP_006723380.1:p.Ile4190= | |
| XM_006723319.1:c.12555C>T | XP_006723382.1:p.Ile4185= | |
| XM_011527204.1:c.12585C>T | XP_011525506.1:p.Ile4195= | |
| XM_011527205.1:c.12588C>T | XP_011525507.1:p.Ile4196= | |
| XM_006723317.2:c.12570C>T | XP_006723380.1:p.Ile4190= | |
| XM_006723319.2:c.12555C>T | XP_006723382.1:p.Ile4185= | |
| XM_011527205.2:c.12588C>T | XP_011525507.1:p.Ile4196= | |
| NM_000540.3:c.12588C>T MANE Select | NP_000531.2:p.Ile4196= | |
| NM_001042723.2:c.12573C>T | NP_001036188.1:p.Ile4191= |