Linked Data
ClinVar Variation Id:
98222
dbSNP Id:
rs63751011
gnomAD v4:
17-46010418-C-T
PubMed:
PMID:7783864
PMID:7936288
PMID:8940276
PMID:9088499
PMID:9392579
PMID:9641683
PMID:10202939
PMID:10443890
PMID:10446810
PMID:11255441
PMID:11708988
PMID:11912108
PMID:11971081
PMID:11971082
PMID:12847166
PMID:15372253
PMID:17923640
PMID:18525295
PMID:19365643
PMID:19766248
PMID:19786698
PMID:19884572
PMID:19914360
PMID:20045477
PMID:23680655
PMID:23885714
PMID:25683866
PMID:26136155
PMID:27594586
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.46010418C>T , CM000679.2:g.46010418C>T | GRCh38 |
| NC_000017.10:g.44087784C>T , CM000679.1:g.44087784C>T | GRCh37 |
| NC_000017.9:g.41443621C>T | NCBI36 |
| NG_007398.1:g.120998C>T | |
| NG_007398.2:g.120956C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420682.7:c.828+16C>T | ENSP00000413056.2:n.828+16C>T | |
| ENST00000703922.1:c.828+16C>T | ENSP00000515557.1:n.828+16C>T | |
| ENST00000703923.1:c.741+16C>T | ENSP00000515558.1:n.741+16C>T | |
| ENST00000703924.1:c.828+16C>T | ENSP00000515559.1:n.828+16C>T | |
| ENST00000703978.1:c.915+16C>T | ENSP00000515600.1:n.915+16C>T | |
| ENST00000703979.1:n.687-3825C>T | ||
| ENST00000703980.1:n.141+16C>T | ||
| ENST00000703981.1:n.84+16C>T | ||
| ENST00000262410.10:c.2091+16C>T MANE Select | ENSP00000262410.6:n.2091+16C>T | |
| ENST00000344290.10:c.1801-3825C>T | ENSP00000340820.6:n.1801-3825C>T | |
| ENST00000351559.10:c.915+16C>T | ENSP00000303214.7:n.915+16C>T | |
| ENST00000535772.6:c.736-3825C>T | ENSP00000443028.2:n.736-3825C>T | |
| ENST00000680542.1:c.828+16C>T | ENSP00000505258.1:n.828+16C>T | |
| ENST00000680674.1:c.741+16C>T | ENSP00000505478.1:n.741+16C>T | |
| ENST00000262410.9:c.1866+16C>T | ENSP00000262410.5:n.1866+16C>T | |
| ENST00000334239.12:c.649-3825C>T | ENSP00000334886.8:n.649-3825C>T | |
| ENST00000340799.9:c.828+16C>T | ENSP00000340438.5:n.828+16C>T | |
| ENST00000344290.9:c.1920+16C>T | ENSP00000340820.5:n.1920+16C>T | |
| ENST00000351559.9:c.915+16C>T | ENSP00000303214.7:n.915+16C>T | |
| ENST00000415613.6:c.1920+16C>T | ENSP00000410838.2:n.1920+16C>T | |
| ENST00000420682.6:c.828+16C>T | ENSP00000413056.2:n.828+16C>T | |
| ENST00000431008.7:c.823-3825C>T | ENSP00000389250.3:n.823-3825C>T | |
| ENST00000446361.7:c.741+16C>T | ENSP00000408975.3:n.741+16C>T | |
| ENST00000535772.5:c.823-3825C>T | ENSP00000443028.1:n.823-3825C>T | |
| ENST00000570299.5:n.777-8200C>T | ||
| ENST00000571987.5:c.1866+16C>T | ENSP00000458742.1:n.1866+16C>T | |
| ENST00000574436.5:c.915+16C>T | ENSP00000460965.1:n.915+16C>T | |
| ENST00000576518.1:n.6108-3825C>T | ||
| NM_001123066.3:c.1920+16C>T | NP_001116538.2:n.1920+16C>T | |
| NM_001123067.3:c.828+16C>T | NP_001116539.1:n.828+16C>T | |
| NM_001203251.1:c.736-3825C>T | NP_001190180.1:n.736-3825C>T | |
| NM_001203252.1:c.823-3825C>T | NP_001190181.1:n.823-3825C>T | |
| NM_005910.5:c.915+16C>T | NP_005901.2:n.915+16C>T | |
| NM_016834.4:c.741+16C>T | NP_058518.1:n.741+16C>T | |
| NM_016835.4:c.1866+16C>T | NP_058519.3:n.1866+16C>T | |
| NM_016841.4:c.649-3825C>T | NP_058525.1:n.649-3825C>T | |
| XM_005257362.3:c.2178+16C>T | XP_005257419.1:n.2178+16C>T | |
| XM_005257364.3:c.2091+16C>T | XP_005257421.1:n.2091+16C>T | |
| XM_005257365.3:c.2086-3825C>T | XP_005257422.1:n.2086-3825C>T | |
| XM_005257366.2:c.2004+16C>T | XP_005257423.1:n.2004+16C>T | |
| XM_005257367.3:c.1980+16C>T | XP_005257424.1:n.1980+16C>T | |
| XM_005257368.3:c.1888-3825C>T | XP_005257425.1:n.1888-3825C>T | |
| XM_005257369.3:c.1113+16C>T | XP_005257426.1:n.1113+16C>T | |
| XM_005257370.3:c.1026+16C>T | XP_005257427.1:n.1026+16C>T | |
| XM_005257371.3:c.939+16C>T | XP_005257428.1:n.939+16C>T | |
| XM_005257362.4:c.2178+16C>T | XP_005257419.1:n.2178+16C>T | |
| XM_005257364.4:c.2091+16C>T | XP_005257421.1:n.2091+16C>T | |
| XM_005257365.4:c.2086-3825C>T | XP_005257422.1:n.2086-3825C>T | |
| XM_005257366.3:c.2004+16C>T | XP_005257423.1:n.2004+16C>T | |
| XM_005257367.4:c.1980+16C>T | XP_005257424.1:n.1980+16C>T | |
| XM_005257368.4:c.1888-3825C>T | XP_005257425.1:n.1888-3825C>T | |
| XM_005257369.4:c.1113+16C>T | XP_005257426.1:n.1113+16C>T | |
| XM_005257370.4:c.1026+16C>T | XP_005257427.1:n.1026+16C>T | |
| XM_005257371.4:c.939+16C>T | XP_005257428.1:n.939+16C>T | |
| NM_001203251.2:c.736-3825C>T | NP_001190180.1:n.736-3825C>T | |
| NM_001377265.1:c.2091+16C>T MANE Select | NP_001364194.1:n.2091+16C>T | |
| NM_001377266.1:c.1801-3825C>T | NP_001364195.1:n.1801-3825C>T | |
| NM_001377267.1:c.736-3825C>T | NP_001364196.1:n.736-3825C>T | |
| NM_001377268.1:c.649-3825C>T | NP_001364197.1:n.649-3825C>T | |
| NM_016834.5:c.741+16C>T | NP_058518.1:n.741+16C>T | |
| NM_016841.5:c.649-3825C>T | NP_058525.1:n.649-3825C>T | |
| NR_165166.1:n.747-3825C>T | ||
| NM_001123066.4:c.1920+16C>T | NP_001116538.2:n.1920+16C>T | |
| NM_001123067.4:c.828+16C>T | NP_001116539.1:n.828+16C>T | |
| NM_001203252.2:c.823-3825C>T | NP_001190181.1:n.823-3825C>T | |
| NM_005910.6:c.915+16C>T | NP_005901.2:n.915+16C>T | |
| NM_016835.5:c.1866+16C>T | NP_058519.3:n.1866+16C>T |