Linked Data
ClinVar Variation Id:
266088
ClinVar RCV Id:
RCV000256470
dbSNP Id:
rs886039801
PubMed:
PMID:27894351
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.33388145G>A , CM000669.2:g.33388145G>A | GRCh38 |
| NC_000007.13:g.33427757G>A , CM000669.1:g.33427757G>A | GRCh37 |
| NC_000007.12:g.33394282G>A | NCBI36 |
| NG_009306.1:g.263606G>A | |
| NG_009306.2:g.263902G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242067.11:c.2115+1G>A MANE Select | ENSP00000242067.6:n.2115+1G>A | |
| ENST00000671871.1:c.2238+1G>A | ENSP00000499908.1:n.2238+1G>A | |
| ENST00000671890.1:c.1980+1G>A | ENSP00000500146.1:n.1980+1G>A | |
| ENST00000671952.1:c.2115+1G>A | ENSP00000500239.1:n.2115+1G>A | |
| ENST00000671963.1:c.1749+1G>A | ENSP00000499904.1:n.1749+1G>A | |
| ENST00000672453.1:n.1884+1G>A | ||
| ENST00000672717.1:c.2010+1G>A | ENSP00000499835.1:n.2010+1G>A | |
| ENST00000672973.1:c.2115+1G>A | ENSP00000500017.1:n.2115+1G>A | |
| ENST00000673056.1:c.2115+1G>A | ENSP00000499989.1:n.2115+1G>A | |
| ENST00000673219.1:c.*1852+1G>A | ENSP00000499968.1:n.*1852+1G>A | |
| ENST00000673230.1:n.2146+1G>A | ||
| ENST00000673431.1:c.1980+1G>A | ENSP00000500552.1:n.1980+1G>A | |
| ENST00000673462.1:c.*861+1G>A | ENSP00000499848.1:n.*861+1G>A | |
| ENST00000242067.10:c.2115+1G>A | ENSP00000242067.6:n.2115+1G>A | |
| ENST00000350941.7:c.1995+1G>A | ENSP00000313122.6:n.1995+1G>A | |
| ENST00000355070.6:c.2100+1G>A | ENSP00000347182.2:n.2100+1G>A | |
| ENST00000396127.6:c.2010+1G>A | ENSP00000379433.2:n.2010+1G>A | |
| ENST00000433714.5:c.*876+1G>A | ENSP00000412159.1:n.*876+1G>A | |
| ENST00000434373.3:c.814+1G>A | ||
| ENST00000496029.1:n.238+1G>A | ||
| NM_001033604.1:c.2010+1G>A | NP_001028776.1:n.2010+1G>A | |
| NM_001033605.1:c.2100+1G>A | NP_001028777.1:n.2100+1G>A | |
| NM_014451.3:c.1995+1G>A | NP_055266.2:n.1995+1G>A | |
| NM_198428.2:c.2115+1G>A | NP_940820.1:n.2115+1G>A | |
| XM_005249700.3:c.2115+1G>A | XP_005249757.1:n.2115+1G>A | |
| XM_005249701.1:c.2115+1G>A | XP_005249758.1:n.2115+1G>A | |
| XM_011515264.1:c.2115+1G>A | XP_011513566.1:n.2115+1G>A | |
| XM_011515265.1:c.2115+1G>A | XP_011513567.1:n.2115+1G>A | |
| XM_011515266.1:c.2100+1G>A | XP_011513568.1:n.2100+1G>A | |
| XM_011515267.1:c.2010+1G>A | XP_011513569.1:n.2010+1G>A | |
| XM_011515268.1:c.2115+1G>A | XP_011513570.1:n.2115+1G>A | |
| XM_011515269.1:c.1842+1G>A | XP_011513571.1:n.1842+1G>A | |
| XM_011515270.1:c.2115+1G>A | XP_011513572.1:n.2115+1G>A | |
| NM_001348036.1:c.2115+1G>A | NP_001334965.1:n.2115+1G>A | |
| NM_001348037.2:c.1749+1G>A | NP_001334966.1:n.1749+1G>A | |
| NM_001348038.2:c.1842+1G>A | NP_001334967.1:n.1842+1G>A | |
| NM_001348039.2:c.1737+1G>A | NP_001334968.1:n.1737+1G>A | |
| NM_001348040.2:c.1995+1G>A | NP_001334969.1:n.1995+1G>A | |
| NM_001348041.3:c.2115+1G>A | NP_001334970.1:n.2115+1G>A | |
| NM_001348042.2:c.1980+1G>A | NP_001334971.1:n.1980+1G>A | |
| NM_001348043.2:c.2115+1G>A | NP_001334972.1:n.2115+1G>A | |
| NM_001348044.2:c.1644+1G>A | NP_001334973.1:n.1644+1G>A | |
| NM_001348045.2:c.1749+1G>A | NP_001334974.1:n.1749+1G>A | |
| NM_001348046.2:c.1749+1G>A | NP_001334975.1:n.1749+1G>A | |
| NM_001362679.1:c.2115+1G>A | NP_001349608.1:n.2115+1G>A | |
| NR_145411.1:n.2394+1G>A | ||
| NR_145412.1:n.2586+1G>A | ||
| NR_145413.2:n.2772+1G>A | ||
| XM_005249701.3:c.2115+1G>A | XP_005249758.1:n.2115+1G>A | |
| XM_011515265.2:c.2115+1G>A | XP_011513567.1:n.2115+1G>A | |
| XM_011515266.3:c.2100+1G>A | XP_011513568.1:n.2100+1G>A | |
| XM_011515267.3:c.2010+1G>A | XP_011513569.1:n.2010+1G>A | |
| XM_011515269.2:c.1842+1G>A | XP_011513571.1:n.1842+1G>A | |
| XM_011515270.3:c.2115+1G>A | XP_011513572.1:n.2115+1G>A | |
| XM_017011990.1:c.2100+1G>A | XP_016867479.1:n.2100+1G>A | |
| NM_001348040.3:c.1995+1G>A | NP_001334969.1:n.1995+1G>A | |
| NM_001348041.4:c.2115+1G>A | NP_001334970.1:n.2115+1G>A | |
| NM_001348043.3:c.2115+1G>A | NP_001334972.1:n.2115+1G>A | |
| NM_198428.3:c.2115+1G>A MANE Select | NP_940820.1:n.2115+1G>A | |
| NM_001033604.2:c.2010+1G>A | NP_001028776.1:n.2010+1G>A | |
| NM_001033605.2:c.2100+1G>A | NP_001028777.1:n.2100+1G>A | |
| NM_001348037.3:c.1749+1G>A | NP_001334966.1:n.1749+1G>A | |
| NM_001348038.3:c.1842+1G>A | NP_001334967.1:n.1842+1G>A | |
| NM_001348039.3:c.1737+1G>A | NP_001334968.1:n.1737+1G>A | |
| NM_001348042.3:c.1980+1G>A | NP_001334971.1:n.1980+1G>A | |
| NM_001348044.3:c.1644+1G>A | NP_001334973.1:n.1644+1G>A | |
| NM_001348045.3:c.1749+1G>A | NP_001334974.1:n.1749+1G>A | |
| NM_001348046.3:c.1749+1G>A | NP_001334975.1:n.1749+1G>A | |
| NM_014451.4:c.1995+1G>A | NP_055266.2:n.1995+1G>A | |
| NR_145413.3:n.2748+1G>A |