Linked Data
ClinVar Variation Id:
1527839
ClinVar RCV Id:
RCV002053865
dbSNP Id:
rs2148308441
MutSpliceDB:
CA412777765
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.45110250G>C , CM000685.2:g.45110250G>C | GRCh38 |
| NC_000023.10:g.44969495G>C , CM000685.1:g.44969495G>C | GRCh37 |
| NC_000023.9:g.44854439G>C | NCBI36 |
| NG_016260.1:g.242073G>C , LRG_616:g.242073G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682908.1:c.4076+1G>C | ENSP00000508158.1:n.4076+1G>C | |
| ENST00000683021.1:c.4095+1G>C | ENSP00000507416.1:n.4095+1G>C | |
| ENST00000683425.1:c.*3659+1G>C | ENSP00000507291.1:n.*3659+1G>C | |
| ENST00000684352.1:c.4106+1G>C | ENSP00000508379.1:n.4106+1G>C | |
| ENST00000377967.9:c.4176+1G>C | ENSP00000367203.4:n.4176+1G>C | |
| ENST00000382899.9:c.4197+1G>C | ENSP00000372355.6:n.4197+1G>C | |
| ENST00000431196.3:c.454+1G>C | ||
| ENST00000479423.2:n.3484+1G>C | ||
| ENST00000536777.6:c.4041+1G>C | ENSP00000437405.3:n.4041+1G>C | |
| ENST00000543216.6:c.3939+1G>C | ENSP00000443078.3:n.3939+1G>C | |
| ENST00000611820.5:c.4332+1G>C MANE Select | ENSP00000483595.2:n.4332+1G>C | |
| ENST00000674541.1:c.*3464+1G>C | ENSP00000501919.1:n.*3464+1G>C | |
| ENST00000674564.1:c.*181+1G>C | ENSP00000502150.1:n.*181+1G>C | |
| ENST00000674586.1:c.4254+1G>C | ENSP00000502660.1:n.4254+1G>C | |
| ENST00000674659.1:c.*3414+1G>C | ENSP00000502255.1:n.*3414+1G>C | |
| ENST00000674739.1:n.5234+1G>C | ||
| ENST00000674867.1:c.4038+1G>C | ENSP00000502060.1:n.4038+1G>C | |
| ENST00000675157.1:n.3783+1G>C | ||
| ENST00000675182.1:n.4216+1G>C | ||
| ENST00000675514.1:c.*727+1G>C | ENSP00000502759.1:n.*727+1G>C | |
| ENST00000675525.1:n.6298+1G>C | ||
| ENST00000675546.1:n.10956+1G>C | ||
| ENST00000675577.1:c.4074+1G>C | ENSP00000501855.1:n.4074+1G>C | |
| ENST00000675816.1:n.5220+1G>C | ||
| ENST00000676062.1:c.*358+1G>C | ENSP00000502311.1:n.*358+1G>C | |
| ENST00000676085.1:c.*3362+1G>C | ENSP00000501752.1:n.*3362+1G>C | |
| ENST00000676133.1:c.*4229+1G>C | ENSP00000502586.1:n.*4229+1G>C | |
| ENST00000676343.1:c.*284+1G>C | ENSP00000501761.1:n.*284+1G>C | |
| ENST00000676389.1:n.4619+1G>C | ||
| ENST00000377967.8:c.4176+1G>C | ENSP00000367203.4:n.4176+1G>C | |
| ENST00000382899.8:c.4125+1G>C | ENSP00000372355.5:n.4125+1G>C | |
| ENST00000414389.5:c.2968+1G>C | ||
| ENST00000431196.2:c.454+1G>C | ||
| ENST00000433797.5:c.3103+1G>C | ||
| ENST00000536777.5:c.3969+1G>C | ENSP00000437405.2:n.3969+1G>C | |
| ENST00000543216.5:c.*181+1G>C | ENSP00000443078.2:n.*181+1G>C | |
| ENST00000611820.4:c.4260+1G>C | ENSP00000483595.1:n.4260+1G>C | |
| ENST00000621147.4:c.2846+1G>C | ENSP00000478793.1:n.2846+1G>C | |
| NM_001291415.1:c.4332+1G>C , LRG_616t1:c.4332+1G>C | NP_001278344.1:n.4332+1G>C | |
| NM_001291416.1:c.4197+1G>C | NP_001278345.1:n.4197+1G>C | |
| NM_001291417.1:c.4041+1G>C | NP_001278346.1:n.4041+1G>C | |
| NM_001291418.1:c.3939+1G>C | NP_001278347.1:n.3939+1G>C | |
| NM_001291421.1:c.3288+1G>C | NP_001278350.1:n.3288+1G>C | |
| NM_021140.3:c.4176+1G>C | NP_066963.2:n.4176+1G>C | |
| NR_111960.1:n.4440+1G>C | ||
| XM_005272656.3:c.4230+1G>C | XP_005272713.1:n.4230+1G>C | |
| XM_005272659.3:c.4074+1G>C | XP_005272716.1:n.4074+1G>C | |
| XM_011543957.1:c.4497+1G>C | XP_011542259.1:n.4497+1G>C | |
| XM_011543958.1:c.4440+1G>C | XP_011542260.1:n.4440+1G>C | |
| XM_011543959.1:c.4395+1G>C | XP_011542261.1:n.4395+1G>C | |
| XM_011543960.1:c.4389+1G>C | XP_011542262.1:n.4389+1G>C | |
| XM_011543961.1:c.4362+1G>C | XP_011542263.1:n.4362+1G>C | |
| XM_011543962.1:c.4341+1G>C | XP_011542264.1:n.4341+1G>C | |
| XM_011543963.1:c.4305+1G>C | XP_011542265.1:n.4305+1G>C | |
| XM_011543964.1:c.4284+1G>C | XP_011542266.1:n.4284+1G>C | |
| XM_011543965.1:c.4260+1G>C | XP_011542267.1:n.4260+1G>C | |
| XM_011543966.1:c.4239+1G>C | XP_011542268.1:n.4239+1G>C | |
| XM_011543967.1:c.4233+1G>C | XP_011542269.1:n.4233+1G>C | |
| XM_011543968.1:c.4206+1G>C | XP_011542270.1:n.4206+1G>C | |
| XM_011543969.1:c.4203+1G>C | XP_011542271.1:n.4203+1G>C | |
| XM_011543970.1:c.4182+1G>C | XP_011542272.1:n.4182+1G>C | |
| XM_011543971.1:c.4152+1G>C | XP_011542273.1:n.4152+1G>C | |
| XM_011543972.1:c.4149+1G>C | XP_011542274.1:n.4149+1G>C | |
| XM_011543973.1:c.4098+1G>C | XP_011542275.1:n.4098+1G>C | |
| XM_011543975.1:c.3687+1G>C | XP_011542277.1:n.3687+1G>C | |
| XM_005272656.5:c.4230+1G>C | XP_005272713.1:n.4230+1G>C | |
| XM_005272659.5:c.4074+1G>C | XP_005272716.1:n.4074+1G>C | |
| XM_011543958.3:c.4440+1G>C | XP_011542260.1:n.4440+1G>C | |
| XM_011543963.3:c.4305+1G>C | XP_011542265.1:n.4305+1G>C | |
| XM_011543964.3:c.4284+1G>C | XP_011542266.1:n.4284+1G>C | |
| XM_011543969.3:c.4203+1G>C | XP_011542271.1:n.4203+1G>C | |
| XM_011543970.3:c.4182+1G>C | XP_011542272.1:n.4182+1G>C | |
| XM_011543972.3:c.4149+1G>C | XP_011542274.1:n.4149+1G>C | |
| XM_011543975.2:c.3687+1G>C | XP_011542277.1:n.3687+1G>C | |
| XM_017029783.2:c.4095+1G>C | XP_016885272.1:n.4095+1G>C | |
| XM_017029784.1:c.3552+1G>C | XP_016885273.1:n.3552+1G>C | |
| XM_017029785.1:c.3186+1G>C | XP_016885274.1:n.3186+1G>C | |
| XM_024452438.1:c.4338+1G>C | XP_024308206.1:n.4338+1G>C | |
| XM_024452439.1:c.3915+1G>C | XP_024308207.1:n.3915+1G>C | |
| XR_002958804.1:n.4874+1G>C | ||
| NM_001291415.2:c.4332+1G>C MANE Select | NP_001278344.1:n.4332+1G>C | |
| NM_001291416.2:c.4197+1G>C | NP_001278345.1:n.4197+1G>C | |
| NM_001291417.2:c.4041+1G>C | NP_001278346.1:n.4041+1G>C | |
| NM_001291418.2:c.3939+1G>C | NP_001278347.1:n.3939+1G>C | |
| NM_001291421.2:c.3288+1G>C | NP_001278350.1:n.3288+1G>C | |
| NM_021140.4:c.4176+1G>C | NP_066963.2:n.4176+1G>C | |
| NR_111960.2:n.4427+1G>C |