Linked Data
dbSNP Id:
rs10242311
gnomAD v2:
7-105273720-A-C
gnomAD v3:
7-105633273-A-C
gnomAD v4:
7-105633273-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.105633273A>C , CM000669.2:g.105633273A>C | GRCh38 |
| NC_000007.13:g.105273720A>C , CM000669.1:g.105273720A>C | GRCh37 |
| NC_000007.12:g.105060956A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000419735.8:c.1202+5080T>G MANE Select | ENSP00000410759.3:n.1202+5080T>G | |
| ENST00000419735.7:c.1202+5080T>G | ENSP00000410759.3:n.1202+5080T>G | |
| ENST00000472195.1:c.830+5080T>G | ENSP00000419566.1:n.830+5080T>G | |
| ENST00000472910.5:n.925+5080T>G | ||
| ENST00000474433.5:c.*777+5080T>G | ENSP00000420483.1:n.*777+5080T>G | |
| ENST00000477775.5:c.830+5080T>G | ENSP00000418476.1:n.830+5080T>G | |
| NM_020725.1:c.1202+5080T>G | NP_065776.1:n.1202+5080T>G | |
| NM_138495.1:c.830+5080T>G | NP_612504.1:n.830+5080T>G | |
| XM_005250220.3:c.1202+5080T>G | XP_005250277.1:n.1202+5080T>G | |
| XM_005250221.1:c.554+5080T>G | XP_005250278.1:n.554+5080T>G | |
| XM_006715900.2:c.1202+5080T>G | XP_006715963.1:n.1202+5080T>G | |
| XM_006715901.2:c.1202+5080T>G | XP_006715964.1:n.1202+5080T>G | |
| XM_006715902.2:c.1202+5080T>G | XP_006715965.1:n.1202+5080T>G | |
| XM_006715903.2:c.1202+5080T>G | XP_006715966.1:n.1202+5080T>G | |
| XM_006715904.2:c.299+5080T>G | XP_006715967.1:n.299+5080T>G | |
| XM_011515935.1:c.1202+5080T>G | XP_011514237.1:n.1202+5080T>G | |
| XM_011515936.1:c.1004+5080T>G | XP_011514238.1:n.1004+5080T>G | |
| XM_011515937.1:c.1202+5080T>G | XP_011514239.1:n.1202+5080T>G | |
| XM_011515938.1:c.893+5080T>G | XP_011514240.1:n.893+5080T>G | |
| XM_011515939.1:c.1202+5080T>G | XP_011514241.1:n.1202+5080T>G | |
| XM_011515940.1:c.1202+5080T>G | XP_011514242.1:n.1202+5080T>G | |
| XM_011515941.1:c.830+5080T>G | XP_011514243.1:n.830+5080T>G | |
| XM_011515942.1:c.830+5080T>G | XP_011514244.1:n.830+5080T>G | |
| XM_011515943.1:c.830+5080T>G | XP_011514245.1:n.830+5080T>G | |
| XM_011515944.1:c.830+5080T>G | XP_011514246.1:n.830+5080T>G | |
| XM_011515945.1:c.554+5080T>G | XP_011514247.1:n.554+5080T>G | |
| XM_011515946.1:c.299+5080T>G | XP_011514248.1:n.299+5080T>G | |
| XM_011515947.1:c.299+5080T>G | XP_011514249.1:n.299+5080T>G | |
| XM_011515948.1:c.1202+5080T>G | XP_011514250.1:n.1202+5080T>G | |
| XM_011515949.1:c.-25+5080T>G | XP_011514251.1:n.-25+5080T>G | |
| XM_011515950.1:c.1202+5080T>G | XP_011514252.1:n.1202+5080T>G | |
| XM_011515951.1:c.1202+5080T>G | XP_011514253.1:n.1202+5080T>G | |
| XM_011515952.1:c.1202+5080T>G | XP_011514254.1:n.1202+5080T>G | |
| XM_011515953.1:c.1202+5080T>G | XP_011514255.1:n.1202+5080T>G | |
| XR_242226.3:n.1312+5080T>G | ||
| XR_927411.1:n.1312+5080T>G | ||
| XR_927412.1:n.1312+5080T>G | ||
| NM_001318229.1:c.554+5080T>G | NP_001305158.1:n.554+5080T>G | |
| XM_005250220.4:c.1202+5080T>G | XP_005250277.1:n.1202+5080T>G | |
| XM_006715900.3:c.1202+5080T>G | XP_006715963.1:n.1202+5080T>G | |
| XM_006715901.3:c.1202+5080T>G | XP_006715964.1:n.1202+5080T>G | |
| XM_006715902.4:c.1202+5080T>G | XP_006715965.1:n.1202+5080T>G | |
| XM_006715903.4:c.1202+5080T>G | XP_006715966.1:n.1202+5080T>G | |
| XM_006715904.3:c.299+5080T>G | XP_006715967.1:n.299+5080T>G | |
| XM_011515935.2:c.1202+5080T>G | XP_011514237.1:n.1202+5080T>G | |
| XM_011515936.2:c.1004+5080T>G | XP_011514238.1:n.1004+5080T>G | |
| XM_011515937.3:c.1202+5080T>G | XP_011514239.1:n.1202+5080T>G | |
| XM_011515938.2:c.893+5080T>G | XP_011514240.1:n.893+5080T>G | |
| XM_011515939.2:c.1202+5080T>G | XP_011514241.1:n.1202+5080T>G | |
| XM_011515940.2:c.1202+5080T>G | XP_011514242.1:n.1202+5080T>G | |
| XM_011515941.2:c.830+5080T>G | XP_011514243.1:n.830+5080T>G | |
| XM_011515942.2:c.830+5080T>G | XP_011514244.1:n.830+5080T>G | |
| XM_011515943.2:c.830+5080T>G | XP_011514245.1:n.830+5080T>G | |
| XM_011515950.2:c.1202+5080T>G | XP_011514252.1:n.1202+5080T>G | |
| XM_017011858.1:c.1010+5080T>G | XP_016867347.1:n.1010+5080T>G | |
| XM_017011859.1:c.830+5080T>G | XP_016867348.1:n.830+5080T>G | |
| XM_017011860.2:c.299+5080T>G | XP_016867349.1:n.299+5080T>G | |
| XM_017011861.1:c.299+5080T>G | XP_016867350.1:n.299+5080T>G | |
| XR_001744596.2:n.1852+5080T>G | ||
| XR_927411.2:n.1852+5080T>G | ||
| NM_001318229.2:c.554+5080T>G | NP_001305158.1:n.554+5080T>G | |
| NM_001385596.1:c.1202+5080T>G | NP_001372525.1:n.1202+5080T>G | |
| NM_020725.2:c.1202+5080T>G MANE Select | NP_065776.1:n.1202+5080T>G | |
| NM_138495.2:c.830+5080T>G | NP_612504.1:n.830+5080T>G |