Linked Data
ClinVar Variation Id:
2150918
ClinVar RCV Id:
RCV003083554
dbSNP Id:
rs760426656
ExAC:
9:137727034 T / C
gnomAD v2:
9-137727034-T-C
gnomAD v3:
9-134835188-T-C
gnomAD v4:
9-134835188-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134835188T>C , CM000671.2:g.134835188T>C | GRCh38 |
| NC_000009.11:g.137727034T>C , CM000671.1:g.137727034T>C | GRCh37 |
| NC_000009.10:g.136866855T>C | NCBI36 |
| NG_008030.1:g.198383T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371820.4:c.5354T>C | ENSP00000360885.4:p.Leu1785Pro | |
| ENST00000371817.8:c.5354T>C MANE Select | ENSP00000360882.3:p.Leu1785Pro | |
| ENST00000371817.7:c.5354T>C | ENSP00000360882.3:p.Leu1785Pro | |
| ENST00000371820.3:c.612T>C | ||
| ENST00000618395.4:c.5354T>C | ENSP00000481360.1:p.Leu1785Pro | |
| NM_000093.4:c.5354T>C | NP_000084.3:p.Leu1785Pro | |
| NM_001278074.1:c.5354T>C | NP_001265003.1:p.Leu1785Pro | |
| NR_103451.2:n.71-14979A>G | ||
| NM_000093.5:c.5354T>C MANE Select | NP_000084.3:p.Leu1785Pro |