Linked Data
ClinVar Variation Id:
1139377
ClinVar RCV Id:
RCV001476076
dbSNP Id:
rs752463776
gnomAD v2:
22-51063729-C-T
gnomAD v3:
22-50625301-C-T
gnomAD v4:
22-50625301-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50625301C>T , CM000684.2:g.50625301C>T | GRCh38 |
| NC_000022.10:g.51063729C>T , CM000684.1:g.51063729C>T | GRCh37 |
| NC_000022.9:g.49410595C>T | NCBI36 |
| NG_009260.2:g.7879G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216124.10:c.1374G>A MANE Select | ENSP00000216124.5:p.Leu458= | |
| ENST00000216124.9:c.1374G>A | ENSP00000216124.5:p.Leu458= | |
| ENST00000356098.9:c.1374G>A | ENSP00000348406.5:p.Leu458= | |
| ENST00000395619.3:c.1374G>A | ENSP00000378981.3:p.Leu458= | |
| ENST00000395621.7:c.1374G>A | ENSP00000378983.3:p.Leu458= | |
| ENST00000453344.6:c.1116G>A | ENSP00000412542.2:p.Leu372= | |
| ENST00000608497.1:c.180+62G>A | ||
| NM_000487.5:c.1374G>A | NP_000478.3:p.Leu458= | |
| NM_001085425.2:c.1374G>A | NP_001078894.2:p.Leu458= | |
| NM_001085426.2:c.1374G>A | NP_001078895.2:p.Leu458= | |
| NM_001085427.2:c.1374G>A | NP_001078896.2:p.Leu458= | |
| NM_001085428.2:c.1116G>A | NP_001078897.1:p.Leu372= | |
| XM_011530690.1:c.1116G>A | XP_011528992.1:p.Leu372= | |
| XM_011530691.1:c.*107G>A | XP_011528993.1:n.*107G>A | |
| NM_001362782.1:c.1116G>A | NP_001349711.1:p.Leu372= | |
| XM_011530691.3:c.*107G>A | XP_011528993.1:n.*107G>A | |
| XM_017028800.1:c.1488G>A | XP_016884289.1:p.Leu496= | |
| XM_024452241.1:c.*107G>A | XP_024308009.1:n.*107G>A | |
| NM_000487.6:c.1374G>A MANE Select | NP_000478.3:p.Leu458= | |
| NM_001085425.3:c.1374G>A | NP_001078894.2:p.Leu458= | |
| NM_001085426.3:c.1374G>A | NP_001078895.2:p.Leu458= | |
| NM_001085427.3:c.1374G>A | NP_001078896.2:p.Leu458= | |
| NM_001085428.3:c.1116G>A | NP_001078897.1:p.Leu372= | |
| NM_001362782.2:c.1116G>A | NP_001349711.1:p.Leu372= |