Linked Data
dbSNP Id:
rs754687318
ExAC:
5:90041430 C / T
gnomAD v2:
5-90041430-C-T
gnomAD v4:
5-90745613-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90745613C>T , CM000667.2:g.90745613C>T | GRCh38 |
| NC_000005.9:g.90041430C>T , CM000667.1:g.90041430C>T | GRCh37 |
| NC_000005.8:g.90077186C>T | NCBI36 |
| NG_007083.1:g.191814C>T | |
| NG_007083.2:g.221270C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.10792C>T MANE Select | ENSP00000384582.2:p.Pro3598Ser | |
| ENST00000639431.1:c.265+69404C>T | ENSP00000491057.1:n.265+69404C>T | |
| ENST00000640374.1:n.3936C>T | ||
| ENST00000640464.1:n.1211C>T | ||
| ENST00000405460.6:c.10792C>T | ENSP00000384582.2:p.Pro3598Ser | |
| ENST00000509621.1:c.3489C>T | ||
| NM_032119.3:c.10792C>T | NP_115495.3:p.Pro3598Ser | |
| NR_003149.1:n.10805C>T | ||
| XM_011543675.1:c.10789C>T | XP_011541977.1:p.Pro3597Ser | |
| XM_011543676.1:c.10711C>T | XP_011541978.1:p.Pro3571Ser | |
| XM_011543677.1:c.8095C>T | XP_011541979.1:p.Pro2699Ser | |
| XM_011543678.1:c.10792C>T | XP_011541980.1:p.Pro3598Ser | |
| XM_011543679.1:c.*14C>T | XP_011541981.1:n.*14C>T | |
| NM_032119.4:c.10792C>T MANE Select | NP_115495.3:p.Pro3598Ser | |
| XM_017009963.2:c.10813C>T | XP_016865452.1:p.Pro3605Ser | |
| XM_017009964.2:c.10810C>T | XP_016865453.1:p.Pro3604Ser | |
| XM_017009965.1:c.10810C>T | XP_016865454.1:p.Pro3604Ser | |
| XM_017009966.2:c.10732C>T | XP_016865455.1:p.Pro3578Ser | |
| XM_017009967.1:c.10717C>T | XP_016865456.1:p.Pro3573Ser | |
| XM_017009968.2:c.10813C>T | XP_016865457.1:p.Pro3605Ser | |
| XM_017009969.2:c.10813C>T | XP_016865458.1:p.Pro3605Ser | |
| XM_017009970.2:c.10813C>T | XP_016865459.1:p.Pro3605Ser | |
| XM_017009971.2:c.10813C>T | XP_016865460.1:p.Pro3605Ser | |
| XM_017009972.1:c.3931C>T | XP_016865461.1:p.Pro1311Ser | |
| XM_017009973.1:c.3910C>T | XP_016865462.1:p.Pro1304Ser | |
| XM_017009974.2:c.*14C>T | XP_016865463.1:n.*14C>T | |
| NR_003149.2:n.10808C>T |