Linked Data
ClinVar Variation Id:
39473
ClinVar RCV Id:
RCV000032669
dbSNP Id:
rs397514508
gnomAD v4:
11-72233099-C-T
PubMed:
PMID:23273567
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72233099C>T , CM000673.2:g.72233099C>T | GRCh38 |
| NC_000011.9:g.71944143C>T , CM000673.1:g.71944143C>T | GRCh37 |
| NC_000011.8:g.71621791C>T | NCBI36 |
| NG_023253.1:g.13262C>T | |
| NG_023253.2:g.13262C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298229.7:c.1976C>T MANE Select | ENSP00000298229.2:p.Pro659Leu | |
| ENST00000298229.6:c.1976C>T | ENSP00000298229.2:p.Pro659Leu | |
| ENST00000538751.5:c.1250C>T | ENSP00000444619.1:p.Pro417Leu | |
| ENST00000541303.5:n.582C>T | ||
| ENST00000541756.5:c.1778C>T | ENSP00000446360.2:p.Pro593Leu | |
| ENST00000545355.5:n.129C>T | ||
| NM_001567.3:c.1976C>T | NP_001558.3:p.Pro659Leu | |
| XM_005273978.3:c.2042C>T | XP_005274035.1:p.Pro681Leu | |
| XM_005273979.3:c.2042C>T | XP_005274036.1:p.Pro681Leu | |
| XM_011544999.1:c.1976C>T | XP_011543301.1:p.Pro659Leu | |
| XM_011545000.1:c.2042C>T | XP_011543302.1:p.Pro681Leu | |
| XM_005273979.4:c.2042C>T | XP_005274036.1:p.Pro681Leu | |
| XM_011544999.2:c.1976C>T | XP_011543301.1:p.Pro659Leu | |
| XM_024448501.1:c.2042C>T | XP_024304269.1:p.Pro681Leu | |
| XM_024448502.1:c.2042C>T | XP_024304270.1:p.Pro681Leu | |
| XM_024448503.1:c.2012C>T | XP_024304271.1:p.Pro671Leu | |
| XM_024448504.1:c.1976C>T | XP_024304272.1:p.Pro659Leu | |
| XM_024448505.1:c.2042C>T | XP_024304273.1:p.Pro681Leu | |
| NM_001567.4:c.1976C>T MANE Select | NP_001558.3:p.Pro659Leu |