Linked Data
ClinVar Variation Id:
136589
dbSNP Id:
rs3740485
ExAC:
10:102750621 C / T
gnomAD v2:
10-102750621-C-T
gnomAD v3:
10-100990864-C-T
gnomAD v4:
10-100990864-C-T
MyVariant Identifiers:
chr10:g.102750621C>T (hg19)
chr10:g.102750621_102750623delinsTGT (hg19)
chr10:g.100990864C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.100990864C>T , CM000672.2:g.100990864C>T | GRCh38 |
| NC_000010.10:g.102750621C>T , CM000672.1:g.102750621C>T | GRCh37 |
| NC_000010.9:g.102740611C>T | NCBI36 |
| NG_011646.1:g.1652G>A | |
| NG_012624.1:g.8329C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311916.8:c.1593-5C>T MANE Select | ENSP00000309595.2:n.1593-5C>T | |
| ENST00000370228.2:c.1593-5C>T | ENSP00000359248.1:n.1593-5C>T | |
| ENST00000643860.1:c.*117-5C>T | ENSP00000494389.1:n.*117-5C>T | |
| ENST00000646226.1:n.408-5C>T | ||
| ENST00000647109.1:c.252-5C>T | ||
| ENST00000650396.1:c.674-5C>T | ||
| ENST00000311916.6:c.1593-5C>T | ENSP00000309595.2:n.1593-5C>T | |
| ENST00000370228.1:c.1593-5C>T | ENSP00000359248.1:n.1593-5C>T | |
| ENST00000473656.5:n.414-5C>T | ||
| ENST00000476766.5:n.479-5C>T | ||
| NM_001163812.1:c.1593-5C>T | NP_001157284.1:n.1593-5C>T | |
| NM_001163813.1:c.231-5C>T | NP_001157285.1:n.231-5C>T | |
| NM_001163814.1:c.231-5C>T | NP_001157286.1:n.231-5C>T | |
| NM_021830.4:c.1593-5C>T | NP_068602.2:n.1593-5C>T | |
| XM_011539974.1:c.231-5C>T | XP_011538276.1:n.231-5C>T | |
| XM_011539975.1:c.231-5C>T | XP_011538277.1:n.231-5C>T | |
| XR_945788.1:n.2364-5C>T | ||
| XM_011539975.2:c.231-5C>T | XP_011538277.1:n.231-5C>T | |
| XM_017016437.1:c.231-5C>T | XP_016871926.1:n.231-5C>T | |
| XR_001747142.1:n.1887-5C>T | ||
| XR_001747144.1:n.1825-5C>T | ||
| XR_002956991.1:n.1705-5C>T | ||
| XR_945788.2:n.1705-5C>T | ||
| NM_021830.5:c.1593-5C>T MANE Select | NP_068602.2:n.1593-5C>T | |
| NM_001163812.2:c.1593-5C>T | NP_001157284.1:n.1593-5C>T | |
| NM_001163813.2:c.231-5C>T | NP_001157285.1:n.231-5C>T | |
| NM_001163814.2:c.231-5C>T | NP_001157286.1:n.231-5C>T | |
| NM_001368275.1:c.231-5C>T | NP_001355204.1:n.231-5C>T | |
| NR_160738.1:n.2381-5C>T | ||
| NR_160739.1:n.541-5C>T | ||
| NR_160740.1:n.2199-5C>T | ||
| NR_160741.1:n.2199-5C>T | ||
| NR_160742.1:n.2319-5C>T |