Linked Data
ClinVar Variation Id:
197928
dbSNP Id:
rs200946170
ExAC:
5:90040876 T / C
gnomAD v2:
5-90040876-T-C
gnomAD v3:
5-90745059-T-C
gnomAD v4:
5-90745059-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90745059T>C , CM000667.2:g.90745059T>C | GRCh38 |
| NC_000005.9:g.90040876T>C , CM000667.1:g.90040876T>C | GRCh37 |
| NC_000005.8:g.90076632T>C | NCBI36 |
| NG_007083.1:g.191260T>C | |
| NG_007083.2:g.220716T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405460.9:c.10563T>C MANE Select | ENSP00000384582.2:p.Leu3521= | |
| ENST00000639431.1:c.265+68850T>C | ENSP00000491057.1:n.265+68850T>C | |
| ENST00000640374.1:n.3707T>C | ||
| ENST00000640464.1:n.982T>C | ||
| ENST00000405460.6:c.10563T>C | ENSP00000384582.2:p.Leu3521= | |
| ENST00000509621.1:c.3260T>C | ||
| NM_032119.3:c.10563T>C | NP_115495.3:p.Leu3521= | |
| NR_003149.1:n.10576T>C | ||
| XM_011543675.1:c.10560T>C | XP_011541977.1:p.Leu3520= | |
| XM_011543676.1:c.10482T>C | XP_011541978.1:p.Leu3494= | |
| XM_011543677.1:c.7866T>C | XP_011541979.1:p.Leu2622= | |
| XM_011543678.1:c.10563T>C | XP_011541980.1:p.Leu3521= | |
| XM_011543679.1:c.10563T>C | XP_011541981.1:p.Leu3521= | |
| NM_032119.4:c.10563T>C MANE Select | NP_115495.3:p.Leu3521= | |
| XM_017009963.2:c.10584T>C | XP_016865452.1:p.Leu3528= | |
| XM_017009964.2:c.10581T>C | XP_016865453.1:p.Leu3527= | |
| XM_017009965.1:c.10581T>C | XP_016865454.1:p.Leu3527= | |
| XM_017009966.2:c.10503T>C | XP_016865455.1:p.Leu3501= | |
| XM_017009967.1:c.10488T>C | XP_016865456.1:p.Leu3496= | |
| XM_017009968.2:c.10584T>C | XP_016865457.1:p.Leu3528= | |
| XM_017009969.2:c.10584T>C | XP_016865458.1:p.Leu3528= | |
| XM_017009970.2:c.10584T>C | XP_016865459.1:p.Leu3528= | |
| XM_017009971.2:c.10584T>C | XP_016865460.1:p.Leu3528= | |
| XM_017009972.1:c.3702T>C | XP_016865461.1:p.Leu1234= | |
| XM_017009973.1:c.3681T>C | XP_016865462.1:p.Leu1227= | |
| XM_017009974.2:c.10584T>C | XP_016865463.1:p.Leu3528= | |
| NR_003149.2:n.10579T>C |