Linked Data
ClinVar Variation Id:
450301
dbSNP Id:
rs201137255
ExAC:
7:73459555 C / T
gnomAD v2:
7-73459555-C-T
gnomAD v3:
7-74045225-C-T
gnomAD v4:
7-74045225-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.74045225C>T , CM000669.2:g.74045225C>T | GRCh38 |
| NC_000007.13:g.73459555C>T , CM000669.1:g.73459555C>T | GRCh37 |
| NC_000007.12:g.73097491C>T | NCBI36 |
| NG_009261.1:g.22129C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000692049.1:c.473C>T | ENSP00000510104.1:p.Ala158Val | |
| ENST00000252034.12:c.473C>T MANE Select | ENSP00000252034.7:p.Ala158Val | |
| ENST00000252034.11:c.473C>T | ENSP00000252034.7:p.Ala158Val | |
| ENST00000320399.10:c.473C>T | ENSP00000313565.6:p.Ala158Val | |
| ENST00000320492.11:c.437C>T | ENSP00000315607.7:p.Ala146Val | |
| ENST00000357036.9:c.488C>T | ENSP00000349540.5:p.Ala163Val | |
| ENST00000358929.8:c.473C>T | ENSP00000351807.5:p.Ala158Val | |
| ENST00000380553.8:c.233-963C>T | ENSP00000369926.4:n.233-963C>T | |
| ENST00000380562.8:c.473C>T | ENSP00000369936.4:p.Ala158Val | |
| ENST00000380575.8:c.443C>T | ENSP00000369949.4:p.Ala148Val | |
| ENST00000380576.9:c.473C>T | ENSP00000369950.5:p.Ala158Val | |
| ENST00000380584.8:c.473C>T | ENSP00000369958.4:p.Ala158Val | |
| ENST00000414324.5:c.458C>T | ENSP00000392575.1:p.Ala153Val | |
| ENST00000417091.5:c.469+1305C>T | ENSP00000411092.1:n.469+1305C>T | |
| ENST00000419398.1:c.455C>T | ENSP00000412262.1:n.455C>T | |
| ENST00000428787.5:c.326-1471C>T | ENSP00000399499.1:n.326-1471C>T | |
| ENST00000429192.5:c.488C>T | ENSP00000391129.1:p.Ala163Val | |
| ENST00000431562.5:c.407C>T | ENSP00000394549.1:p.Ala136Val | |
| ENST00000438880.5:c.197-1471C>T | ENSP00000389206.1:n.197-1471C>T | |
| ENST00000438906.5:c.437C>T | ENSP00000406949.1:p.Ala146Val | |
| ENST00000442310.5:c.428-963C>T | ENSP00000403961.1:n.428-963C>T | |
| ENST00000445912.5:c.473C>T | ENSP00000389857.1:p.Ala158Val | |
| ENST00000458204.5:c.443C>T | ENSP00000403162.1:p.Ala148Val | |
| ENST00000479432.5:n.452C>T | ||
| ENST00000621115.4:c.439+1305C>T | ENSP00000480955.1:n.439+1305C>T | |
| NM_000501.3:c.473C>T | NP_000492.2:p.Ala158Val | |
| NM_001081752.2:c.443C>T | NP_001075221.1:p.Ala148Val | |
| NM_001081753.2:c.488C>T | NP_001075222.1:p.Ala163Val | |
| NM_001081754.2:c.488C>T | NP_001075223.1:p.Ala163Val | |
| NM_001081755.2:c.473C>T | NP_001075224.1:p.Ala158Val | |
| NM_001278912.1:c.473C>T | NP_001265841.1:p.Ala158Val | |
| NM_001278913.1:c.437C>T | NP_001265842.1:p.Ala146Val | |
| NM_001278914.1:c.458C>T | NP_001265843.1:p.Ala153Val | |
| NM_001278915.1:c.473C>T | NP_001265844.1:p.Ala158Val | |
| NM_001278916.1:c.473C>T | NP_001265845.1:p.Ala158Val | |
| NM_001278917.1:c.443C>T | NP_001265846.1:p.Ala148Val | |
| NM_001278918.1:c.439+1305C>T | NP_001265847.1:n.439+1305C>T | |
| NM_001278939.1:c.473C>T | NP_001265868.1:p.Ala158Val | |
| XM_005250187.1:c.437C>T | XP_005250244.1:p.Ala146Val | |
| XM_005250188.1:c.473C>T | XP_005250245.1:p.Ala158Val | |
| XM_011515868.1:c.488C>T | XP_011514170.1:p.Ala163Val | |
| XM_011515869.1:c.458C>T | XP_011514171.1:p.Ala153Val | |
| XM_011515870.1:c.452C>T | XP_011514172.1:p.Ala151Val | |
| XM_011515871.1:c.488C>T | XP_011514173.1:p.Ala163Val | |
| XM_011515872.1:c.488C>T | XP_011514174.1:p.Ala163Val | |
| XM_011515873.1:c.488C>T | XP_011514175.1:p.Ala163Val | |
| XM_011515874.1:c.422C>T | XP_011514176.1:p.Ala141Val | |
| XM_011515875.1:c.407C>T | XP_011514177.1:p.Ala136Val | |
| XM_011515876.1:c.488C>T | XP_011514178.1:p.Ala163Val | |
| XM_011515877.1:c.488C>T | XP_011514179.1:p.Ala163Val | |
| XM_005250187.2:c.437C>T | XP_005250244.1:p.Ala146Val | |
| XM_005250188.2:c.473C>T | XP_005250245.1:p.Ala158Val | |
| XM_011515868.2:c.488C>T | XP_011514170.1:p.Ala163Val | |
| XM_011515871.2:c.488C>T | XP_011514173.1:p.Ala163Val | |
| XM_011515872.2:c.488C>T | XP_011514174.1:p.Ala163Val | |
| XM_011515873.2:c.488C>T | XP_011514175.1:p.Ala163Val | |
| XM_011515875.2:c.407C>T | XP_011514177.1:p.Ala136Val | |
| XM_011515876.2:c.488C>T | XP_011514178.1:p.Ala163Val | |
| XM_011515877.2:c.488C>T | XP_011514179.1:p.Ala163Val | |
| XM_017011813.1:c.443C>T | XP_016867302.1:p.Ala148Val | |
| XM_017011814.2:c.488C>T | XP_016867303.1:p.Ala163Val | |
| NM_000501.4:c.473C>T MANE Select | NP_000492.2:p.Ala158Val | |
| NM_001081752.3:c.443C>T | NP_001075221.1:p.Ala148Val | |
| NM_001081753.3:c.488C>T | NP_001075222.1:p.Ala163Val | |
| NM_001081754.3:c.488C>T | NP_001075223.1:p.Ala163Val | |
| NM_001081755.3:c.473C>T | NP_001075224.1:p.Ala158Val | |
| NM_001278912.2:c.473C>T | NP_001265841.1:p.Ala158Val | |
| NM_001278913.2:c.437C>T | NP_001265842.1:p.Ala146Val | |
| NM_001278914.2:c.458C>T | NP_001265843.1:p.Ala153Val | |
| NM_001278915.2:c.473C>T | NP_001265844.1:p.Ala158Val | |
| NM_001278916.2:c.473C>T | NP_001265845.1:p.Ala158Val | |
| NM_001278917.2:c.443C>T | NP_001265846.1:p.Ala148Val | |
| NM_001278918.2:c.439+1305C>T | NP_001265847.1:n.439+1305C>T | |
| NM_001278939.2:c.473C>T | NP_001265868.1:p.Ala158Val |