Linked Data
ClinVar Variation Id:
1382704
ClinVar RCV Id:
RCV001890487
dbSNP Id:
rs747354470
ExAC:
7:21856233 T / C
gnomAD v2:
7-21856233-T-C
gnomAD v4:
7-21816615-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21816615T>C , CM000669.2:g.21816615T>C | GRCh38 |
| NC_000007.13:g.21856233T>C , CM000669.1:g.21856233T>C | GRCh37 |
| NC_000007.12:g.21822758T>C | NCBI36 |
| NG_012886.2:g.278401T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.10481T>C MANE Select | ENSP00000475939.1:p.Leu3494Pro | |
| ENST00000328843.10:c.10502T>C | ENSP00000330671.7:p.Leu3501Pro | |
| ENST00000409508.7:c.10481T>C | ENSP00000475939.1:p.Leu3494Pro | |
| ENST00000620169.4:c.10502T>C | ENSP00000481693.1:p.Leu3501Pro | |
| NM_001277115.1:c.10481T>C | NP_001264044.1:p.Leu3494Pro | |
| NM_001277115.2:c.10481T>C MANE Select | NP_001264044.1:p.Leu3494Pro |