Linked Data
ClinVar Variation Id:
2080555
ClinVar RCV Id:
RCV003002013
dbSNP Id:
rs752021061
ExAC:
2:220149375 T / C
gnomAD v2:
2-220149375-T-C
gnomAD v3:
2-219284653-T-C
gnomAD v4:
2-219284653-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219284653T>C , CM000664.2:g.219284653T>C | GRCh38 |
| NC_000002.11:g.220149375T>C , CM000664.1:g.220149375T>C | GRCh37 |
| NC_000002.10:g.219857619T>C | NCBI36 |
| NG_029553.1:g.10336T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684599.1:n.848T>C | ||
| ENST00000336576.10:c.641T>C MANE Select | ENSP00000338019.5:p.Leu214Pro | |
| ENST00000336576.9:c.641T>C | ENSP00000338019.5:p.Leu214Pro | |
| ENST00000392086.8:c.641T>C | ENSP00000375936.4:p.Leu214Pro | |
| ENST00000392087.6:c.548T>C | ENSP00000375937.2:p.Leu183Pro | |
| ENST00000425450.5:c.641T>C | ENSP00000414796.1:p.Leu214Pro | |
| ENST00000463463.5:n.632T>C | ||
| ENST00000472019.5:n.384T>C | ||
| ENST00000473750.5:n.428T>C | ||
| ENST00000476254.1:n.265T>C | ||
| ENST00000477917.5:n.2245T>C | ||
| NM_001039550.1:c.641T>C | NP_001034639.1:p.Leu214Pro | |
| NM_006736.5:c.641T>C | NP_006727.2:p.Leu214Pro | |
| NM_001039550.2:c.641T>C | NP_001034639.1:p.Leu214Pro | |
| NM_006736.6:c.641T>C MANE Select | NP_006727.2:p.Leu214Pro |