Linked Data
ClinVar Variation Id:
12975
ClinVar RCV Id:
RCV000013843
RCV000013844
RCV000119552
RCV000535754
RCV000763430
RCV001787754
RCV001787756
RCV001787758
RCV001787760
RCV001787755
RCV001787757
RCV001787759
dbSNP Id:
rs118192170
gnomAD v4:
19-38584989-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38584989T>C , CM000681.2:g.38584989T>C | GRCh38 |
| NC_000019.9:g.39075629T>C , CM000681.1:g.39075629T>C | GRCh37 |
| NC_000019.8:g.43767469T>C | NCBI36 |
| NG_008866.1:g.156290T>C , LRG_766:g.156290T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.1629T>C | ||
| ENST00000688602.1:c.3026T>C | ||
| ENST00000689936.1:c.2998T>C | ||
| ENST00000692547.1:n.86T>C | ||
| ENST00000359596.8:c.14693T>C MANE Select | ENSP00000352608.2:p.Ile4898Thr | |
| ENST00000355481.8:c.14678T>C | ENSP00000347667.3:p.Ile4893Thr | |
| ENST00000359596.7:c.14693T>C | ENSP00000352608.2:p.Ile4898Thr | |
| ENST00000360985.7:c.14675T>C | ENSP00000354254.4:p.Ile4892Thr | |
| NM_000540.2:c.14693T>C , LRG_766t1:c.14693T>C | NP_000531.2:p.Ile4898Thr | |
| NM_001042723.1:c.14678T>C | NP_001036188.1:p.Ile4893Thr | |
| XM_006723317.1:c.14675T>C | XP_006723380.1:p.Ile4892Thr | |
| XM_006723319.1:c.14660T>C | XP_006723382.1:p.Ile4887Thr | |
| XM_011527204.1:c.14690T>C | XP_011525506.1:p.Ile4897Thr | |
| XM_011527205.1:c.14606T>C | XP_011525507.1:p.Ile4869Thr | |
| XM_006723317.2:c.14675T>C | XP_006723380.1:p.Ile4892Thr | |
| XM_006723319.2:c.14660T>C | XP_006723382.1:p.Ile4887Thr | |
| XM_011527205.2:c.14606T>C | XP_011525507.1:p.Ile4869Thr | |
| NM_000540.3:c.14693T>C MANE Select | NP_000531.2:p.Ile4898Thr | |
| NM_001042723.2:c.14678T>C | NP_001036188.1:p.Ile4893Thr |