Linked Data
ClinVar Variation Id:
1301989
ClinVar RCV Id:
RCV001733854
dbSNP Id:
rs2129106555
MutSpliceDB:
CA370106459
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152167145C>T , CM000669.2:g.152167145C>T | GRCh38 |
| NC_000007.13:g.151864230C>T , CM000669.1:g.151864230C>T | GRCh37 |
| NC_000007.12:g.151495163C>T | NCBI36 |
| NG_033948.1:g.273861G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682283.1:c.9750+1G>A | ENSP00000507485.1:n.9750+1G>A | |
| ENST00000683120.1:n.1736+1G>A | ||
| ENST00000683178.1:c.233+1G>A | ||
| ENST00000683200.1:c.7098+1G>A | ENSP00000508052.1:n.7098+1G>A | |
| ENST00000683397.1:c.4508+1G>A | ENSP00000507053.1:n.4508+1G>A | |
| ENST00000683502.1:c.233+1G>A | ||
| ENST00000683625.1:c.4485+1G>A | ENSP00000507769.1:n.4485+1G>A | |
| ENST00000683670.1:c.4485+1G>A | ENSP00000507634.1:n.4485+1G>A | |
| ENST00000684261.1:c.4485+1G>A | ENSP00000508097.1:n.4485+1G>A | |
| ENST00000684307.1:c.4421+1G>A | ENSP00000507202.1:n.4421+1G>A | |
| ENST00000684398.1:c.4485+1G>A | ENSP00000507254.1:n.4485+1G>A | |
| ENST00000684649.1:c.233+1G>A | ||
| ENST00000262189.11:c.9750+1G>A MANE Select | ENSP00000262189.6:n.9750+1G>A | |
| ENST00000360104.8:c.5372+1G>A | ||
| ENST00000418061.2:c.233+1G>A | ||
| ENST00000424877.6:c.233+1G>A | ||
| ENST00000679393.1:n.3241+1G>A | ||
| ENST00000679560.1:c.4485+1G>A | ENSP00000505094.1:n.4485+1G>A | |
| ENST00000679882.1:c.9525+1G>A | ENSP00000506154.1:n.9525+1G>A | |
| ENST00000680029.1:c.233+1G>A | ||
| ENST00000680877.1:c.4485+1G>A | ENSP00000505724.1:n.4485+1G>A | |
| ENST00000680969.1:c.7146+1G>A | ENSP00000505951.1:n.7146+1G>A | |
| ENST00000262189.10:c.9750+1G>A | ENSP00000262189.6:n.9750+1G>A | |
| ENST00000355193.6:c.9750+1G>A | ENSP00000347325.3:n.9750+1G>A | |
| ENST00000360104.7:c.2266+1G>A | ||
| ENST00000473186.5:n.7461+1G>A | ||
| ENST00000558084.5:c.*7270+1G>A | ENSP00000453752.1:n.*7270+1G>A | |
| NM_170606.2:c.9750+1G>A | NP_733751.2:n.9750+1G>A | |
| XM_005250025.3:c.9801+1G>A | XP_005250082.1:n.9801+1G>A | |
| XM_005250026.2:c.9798+1G>A | XP_005250083.1:n.9798+1G>A | |
| XM_005250027.3:c.9801+1G>A | XP_005250084.1:n.9801+1G>A | |
| XM_005250028.3:c.9801+1G>A | XP_005250085.1:n.9801+1G>A | |
| XM_005250031.3:c.9801+1G>A | XP_005250088.1:n.9801+1G>A | |
| XM_006716077.2:c.9801+1G>A | XP_006716140.1:n.9801+1G>A | |
| XM_006716078.2:c.9801+1G>A | XP_006716141.1:n.9801+1G>A | |
| XM_006716079.2:c.9801+1G>A | XP_006716142.1:n.9801+1G>A | |
| XM_011516450.1:c.9753+1G>A | XP_011514752.1:n.9753+1G>A | |
| XM_011516451.1:c.9681+1G>A | XP_011514753.1:n.9681+1G>A | |
| XM_011516452.1:c.9648+1G>A | XP_011514754.1:n.9648+1G>A | |
| XM_011516453.1:c.9801+1G>A | XP_011514755.1:n.9801+1G>A | |
| XM_011516454.1:c.8886+1G>A | XP_011514756.1:n.8886+1G>A | |
| XM_011516455.1:c.7347+1G>A | XP_011514757.1:n.7347+1G>A | |
| XM_011516456.1:c.9753+1G>A | XP_011514758.1:n.9753+1G>A | |
| XR_428183.2:n.10009+1G>A | ||
| XM_005250025.4:c.9801+1G>A | XP_005250082.1:n.9801+1G>A | |
| XM_005250026.3:c.9798+1G>A | XP_005250083.1:n.9798+1G>A | |
| XM_005250027.4:c.9801+1G>A | XP_005250084.1:n.9801+1G>A | |
| XM_005250028.4:c.9801+1G>A | XP_005250085.1:n.9801+1G>A | |
| XM_005250031.4:c.9801+1G>A | XP_005250088.1:n.9801+1G>A | |
| XM_006716077.3:c.9801+1G>A | XP_006716140.1:n.9801+1G>A | |
| XM_006716078.3:c.9801+1G>A | XP_006716141.1:n.9801+1G>A | |
| XM_006716079.3:c.9801+1G>A | XP_006716142.1:n.9801+1G>A | |
| XM_011516450.2:c.9753+1G>A | XP_011514752.1:n.9753+1G>A | |
| XM_011516451.2:c.9681+1G>A | XP_011514753.1:n.9681+1G>A | |
| XM_011516452.2:c.9648+1G>A | XP_011514754.1:n.9648+1G>A | |
| XM_011516453.2:c.9801+1G>A | XP_011514755.1:n.9801+1G>A | |
| XM_011516454.2:c.8886+1G>A | XP_011514756.1:n.8886+1G>A | |
| XM_011516456.2:c.9753+1G>A | XP_011514758.1:n.9753+1G>A | |
| XM_017012480.1:c.9801+1G>A | XP_016867969.1:n.9801+1G>A | |
| XM_017012481.1:c.9798+1G>A | XP_016867970.1:n.9798+1G>A | |
| XM_017012482.1:c.9801+1G>A | XP_016867971.1:n.9801+1G>A | |
| XM_017012483.1:c.9801+1G>A | XP_016867972.1:n.9801+1G>A | |
| XM_017012484.1:c.9768+1G>A | XP_016867973.1:n.9768+1G>A | |
| XM_017012485.1:c.9750+1G>A | XP_016867974.1:n.9750+1G>A | |
| XM_017012486.1:c.9801+1G>A | XP_016867975.1:n.9801+1G>A | |
| XM_017012487.1:c.9654+1G>A | XP_016867976.1:n.9654+1G>A | |
| XM_017012488.1:c.9618+1G>A | XP_016867977.1:n.9618+1G>A | |
| XM_017012489.1:c.6471+1G>A | XP_016867978.1:n.6471+1G>A | |
| XM_017012490.2:c.6075+1G>A | XP_016867979.1:n.6075+1G>A | |
| XM_024446852.1:c.9798+1G>A | XP_024302620.1:n.9798+1G>A | |
| XM_024446853.1:c.9801+1G>A | XP_024302621.1:n.9801+1G>A | |
| XR_428183.3:n.10033+1G>A | ||
| NM_170606.3:c.9750+1G>A MANE Select | NP_733751.2:n.9750+1G>A |