Linked Data
ClinVar Variation Id:
745118
ClinVar RCV Id:
RCV000921625
dbSNP Id:
rs1577810010
gnomAD v4:
3-185652112-T-A
MyVariant Identifiers:
chr3:g.185369900T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.185652112T>A , CM000665.2:g.185652112T>A | GRCh38 |
| NC_000003.11:g.185369900T>A , CM000665.1:g.185369900T>A | GRCh37 |
| NC_000003.10:g.186852594T>A | NCBI36 |
| NG_011602.1:g.177928A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382199.7:c.1443A>T MANE Select | ENSP00000371634.3:p.Pro481= | |
| ENST00000346192.7:c.1314A>T | ENSP00000320204.5:p.Pro438= | |
| ENST00000382199.6:c.1443A>T | ENSP00000371634.2:p.Pro481= | |
| ENST00000421047.3:c.1254A>T | ENSP00000413787.3:p.Pro418= | |
| ENST00000457616.6:c.1461A>T | ENSP00000410242.2:p.Pro487= | |
| ENST00000494906.1:n.768A>T | ||
| NM_001007225.1:c.1314A>T | NP_001007226.1:p.Pro438= | |
| NM_001291869.1:c.1461A>T | NP_001278798.1:p.Pro487= | |
| NM_001291872.1:c.1272A>T | NP_001278801.1:p.Pro424= | |
| NM_001291873.1:c.1254A>T | NP_001278802.1:p.Pro418= | |
| NM_001291874.1:c.1125A>T | NP_001278803.1:p.Pro375= | |
| NM_001291875.1:c.1035A>T | NP_001278804.1:p.Pro345= | |
| NM_006548.4:c.1443A>T | NP_006539.3:p.Pro481= | |
| XM_006713477.2:c.675A>T | XP_006713540.1:p.Pro225= | |
| XM_006713478.2:c.546A>T | XP_006713541.1:p.Pro182= | |
| XM_011512337.1:c.1200A>T | XP_011510639.1:p.Pro400= | |
| XM_011512339.1:c.*103A>T | XP_011510641.1:n.*103A>T | |
| XM_011512340.1:c.774A>T | XP_011510642.1:p.Pro258= | |
| XM_011512342.1:c.675A>T | XP_011510644.1:p.Pro225= | |
| XR_427358.2:n.1522A>T | ||
| NM_001007225.2:c.1314A>T | NP_001007226.1:p.Pro438= | |
| NM_001291869.2:c.1461A>T | NP_001278798.1:p.Pro487= | |
| NM_001291872.2:c.1272A>T | NP_001278801.1:p.Pro424= | |
| NM_001291873.2:c.1254A>T | NP_001278802.1:p.Pro418= | |
| NM_001291874.2:c.1125A>T | NP_001278803.1:p.Pro375= | |
| NM_001291875.2:c.1035A>T | NP_001278804.1:p.Pro345= | |
| NM_006548.5:c.1443A>T | NP_006539.3:p.Pro481= | |
| NR_138486.1:n.1410A>T | ||
| XM_006713477.4:c.675A>T | XP_006713540.1:p.Pro225= | |
| XM_006713478.4:c.546A>T | XP_006713541.1:p.Pro182= | |
| XM_017005557.2:c.1434A>T | XP_016861046.1:p.Pro478= | |
| XM_017005558.2:c.1332A>T | XP_016861047.1:p.Pro444= | |
| XM_017005559.2:c.1461A>T | XP_016861048.1:p.Pro487= | |
| XM_017005560.2:c.1257A>T | XP_016861049.1:p.Pro419= | |
| XM_017005562.1:c.*103A>T | XP_016861051.1:n.*103A>T | |
| XM_024453316.1:c.1035A>T | XP_024309084.1:p.Pro345= | |
| XR_001739984.2:n.1546A>T | ||
| NM_001007225.3:c.1314A>T | NP_001007226.1:p.Pro438= | |
| NM_001291869.3:c.1461A>T | NP_001278798.1:p.Pro487= | |
| NM_001291872.3:c.1272A>T | NP_001278801.1:p.Pro424= | |
| NM_001291874.3:c.1125A>T | NP_001278803.1:p.Pro375= | |
| NM_001291875.3:c.1035A>T | NP_001278804.1:p.Pro345= | |
| NM_006548.6:c.1443A>T MANE Select | NP_006539.3:p.Pro481= | |
| NR_138486.2:n.1396A>T | ||
| NM_001291873.3:c.1254A>T | NP_001278802.1:p.Pro418= |