Linked Data
ClinVar Variation Id:
1895434
ClinVar RCV Id:
RCV002512504
MyVariant Identifiers:
chr7:g.151904386T>C (hg19)
MutSpliceDB:
CA458693316
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152207301T>C , CM000669.2:g.152207301T>C | GRCh38 |
| NC_000007.13:g.151904386T>C , CM000669.1:g.151904386T>C | GRCh37 |
| NC_000007.12:g.151535319T>C | NCBI36 |
| NG_033948.1:g.233705A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682176.1:c.517A>G | ||
| ENST00000682283.1:c.3840A>G | ENSP00000507485.1:p.Pro1280= | |
| ENST00000683200.1:c.1188A>G | ENSP00000508052.1:p.Pro396= | |
| ENST00000683254.1:n.1663A>G | ||
| ENST00000683490.1:c.3840A>G | ENSP00000507385.1:p.Pro1280= | |
| ENST00000684550.1:c.3840A>G | ENSP00000507135.1:p.Pro1280= | |
| ENST00000684623.1:n.2718A>G | ||
| ENST00000262189.11:c.3840A>G MANE Select | ENSP00000262189.6:p.Pro1280= | |
| ENST00000489110.2:n.1347A>G | ||
| ENST00000679645.1:c.3104A>G | ENSP00000505745.1:p.Gln1035Arg | |
| ENST00000679882.1:c.3720A>G | ENSP00000506154.1:p.Pro1240= | |
| ENST00000680969.1:c.1188A>G | ENSP00000505951.1:p.Pro396= | |
| ENST00000681033.1:c.2538A>G | ENSP00000505058.1:p.Pro846= | |
| ENST00000681838.1:c.1188A>G | ENSP00000505661.1:p.Pro396= | |
| ENST00000262189.10:c.3840A>G | ENSP00000262189.6:p.Pro1280= | |
| ENST00000355193.6:c.3840A>G | ENSP00000347325.3:p.Pro1280= | |
| ENST00000473186.5:n.1551A>G | ||
| ENST00000558084.5:c.*1360A>G | ENSP00000453752.1:n.*1360A>G | |
| NM_170606.2:c.3840A>G | NP_733751.2:p.Pro1280= | |
| XM_005250025.3:c.3843A>G | XP_005250082.1:p.Pro1281= | |
| XM_005250026.2:c.3840A>G | XP_005250083.1:p.Pro1280= | |
| XM_005250027.3:c.3843A>G | XP_005250084.1:p.Pro1281= | |
| XM_005250028.3:c.3843A>G | XP_005250085.1:p.Pro1281= | |
| XM_005250031.3:c.3843A>G | XP_005250088.1:p.Pro1281= | |
| XM_006716077.2:c.3843A>G | XP_006716140.1:p.Pro1281= | |
| XM_006716078.2:c.3843A>G | XP_006716141.1:p.Pro1281= | |
| XM_006716079.2:c.3843A>G | XP_006716142.1:p.Pro1281= | |
| XM_011516450.1:c.3843A>G | XP_011514752.1:p.Pro1281= | |
| XM_011516451.1:c.3723A>G | XP_011514753.1:p.Pro1241= | |
| XM_011516452.1:c.3843A>G | XP_011514754.1:p.Pro1281= | |
| XM_011516453.1:c.3843A>G | XP_011514755.1:p.Pro1281= | |
| XM_011516454.1:c.2928A>G | XP_011514756.1:p.Pro976= | |
| XM_011516455.1:c.1389A>G | XP_011514757.1:p.Pro463= | |
| XM_011516456.1:c.3843A>G | XP_011514758.1:p.Pro1281= | |
| XR_428183.2:n.4051A>G | ||
| XM_005250025.4:c.3843A>G | XP_005250082.1:p.Pro1281= | |
| XM_005250026.3:c.3840A>G | XP_005250083.1:p.Pro1280= | |
| XM_005250027.4:c.3843A>G | XP_005250084.1:p.Pro1281= | |
| XM_005250028.4:c.3843A>G | XP_005250085.1:p.Pro1281= | |
| XM_005250031.4:c.3843A>G | XP_005250088.1:p.Pro1281= | |
| XM_006716077.3:c.3843A>G | XP_006716140.1:p.Pro1281= | |
| XM_006716078.3:c.3843A>G | XP_006716141.1:p.Pro1281= | |
| XM_006716079.3:c.3843A>G | XP_006716142.1:p.Pro1281= | |
| XM_011516450.2:c.3843A>G | XP_011514752.1:p.Pro1281= | |
| XM_011516451.2:c.3723A>G | XP_011514753.1:p.Pro1241= | |
| XM_011516452.2:c.3843A>G | XP_011514754.1:p.Pro1281= | |
| XM_011516453.2:c.3843A>G | XP_011514755.1:p.Pro1281= | |
| XM_011516454.2:c.2928A>G | XP_011514756.1:p.Pro976= | |
| XM_011516456.2:c.3843A>G | XP_011514758.1:p.Pro1281= | |
| XM_017012480.1:c.3843A>G | XP_016867969.1:p.Pro1281= | |
| XM_017012481.1:c.3840A>G | XP_016867970.1:p.Pro1280= | |
| XM_017012482.1:c.3843A>G | XP_016867971.1:p.Pro1281= | |
| XM_017012483.1:c.3843A>G | XP_016867972.1:p.Pro1281= | |
| XM_017012484.1:c.3810A>G | XP_016867973.1:p.Pro1270= | |
| XM_017012485.1:c.3840A>G | XP_016867974.1:p.Pro1280= | |
| XM_017012486.1:c.3843A>G | XP_016867975.1:p.Pro1281= | |
| XM_017012487.1:c.3696A>G | XP_016867976.1:p.Pro1232= | |
| XM_017012488.1:c.3843A>G | XP_016867977.1:p.Pro1281= | |
| XM_017012489.1:c.513A>G | XP_016867978.1:p.Pro171= | |
| XM_017012490.2:c.117A>G | XP_016867979.1:p.Pro39= | |
| XM_024446852.1:c.3840A>G | XP_024302620.1:p.Pro1280= | |
| XM_024446853.1:c.3843A>G | XP_024302621.1:p.Pro1281= | |
| XR_428183.3:n.4075A>G | ||
| NM_170606.3:c.3840A>G MANE Select | NP_733751.2:p.Pro1280= |