Linked Data
dbSNP Id:
rs1567312681
gnomAD v2:
16-1560950-G-T
gnomAD v4:
16-1510949-G-T
MyVariant Identifiers:
chr16:g.1560950G>T (hg19)
chr16:g.1560950_1560953delinsTGTC (hg19)
chr16:g.1510949G>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1510949G>T , CM000678.2:g.1510949G>T | GRCh38 |
| NC_000016.9:g.1560950G>T , CM000678.1:g.1560950G>T | GRCh37 |
| NC_000016.8:g.1500951G>T | NCBI36 |
| NG_032783.1:g.106160C>A | |
| NG_050910.1:g.22606G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426508.7:c.4384C>A MANE Select | ENSP00000406012.2:p.Pro1462Thr | |
| ENST00000361339.9:c.1966C>A | ENSP00000354895.5:p.Pro656Thr | |
| ENST00000397417.6:c.*2822C>A | ENSP00000380562.2:n.*2822C>A | |
| ENST00000426508.6:c.4384C>A | ENSP00000406012.2:p.Pro1462Thr | |
| ENST00000565298.5:n.4208C>A | ||
| NM_014714.3:c.4384C>A | NP_055529.2:p.Pro1462Thr | |
| XM_006720989.2:c.4384C>A | XP_006721052.1:p.Pro1462Thr | |
| XM_006720990.2:c.4384C>A | XP_006721053.1:p.Pro1462Thr | |
| XM_006720991.2:c.4384C>A | XP_006721054.1:p.Pro1462Thr | |
| XM_006720992.2:c.2017C>A | XP_006721055.1:p.Pro673Thr | |
| XM_011522766.1:c.4138C>A | XP_011521068.1:p.Pro1380Thr | |
| XM_011522767.1:c.3409C>A | XP_011521069.1:p.Pro1137Thr | |
| XM_006720990.3:c.4384C>A | XP_006721053.1:p.Pro1462Thr | |
| XM_006720991.3:c.4384C>A | XP_006721054.1:p.Pro1462Thr | |
| XM_006720992.3:c.2017C>A | XP_006721055.1:p.Pro673Thr | |
| XM_011522766.3:c.4138C>A | XP_011521068.1:p.Pro1380Thr | |
| XM_011522767.2:c.3409C>A | XP_011521069.1:p.Pro1137Thr | |
| XM_017023910.1:c.4384C>A | XP_016879399.1:p.Pro1462Thr | |
| XM_017023911.1:c.2569C>A | XP_016879400.1:p.Pro857Thr | |
| NM_014714.4:c.4384C>A MANE Select | NP_055529.2:p.Pro1462Thr |