Linked Data
ClinVar Variation Id:
335201
dbSNP Id:
rs200760509
ExAC:
2:240951023 G / A
gnomAD v2:
2-240951023-G-A
gnomAD v3:
2-240011606-G-A
gnomAD v4:
2-240011606-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240011606G>A , CM000664.2:g.240011606G>A | GRCh38 |
| NC_000002.11:g.240951023G>A , CM000664.1:g.240951023G>A | GRCh37 |
| NC_000002.10:g.240599696G>A | NCBI36 |
| NG_031855.1:g.18797C>T | |
| NG_031855.2:g.18797C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252711.7:c.749+11C>T MANE Select | ENSP00000252711.2:n.749+11C>T | |
| ENST00000414580.2:c.*3337+11C>T | ENSP00000388413.2:n.*3337+11C>T | |
| ENST00000444548.6:c.749+11C>T | ENSP00000403080.2:n.749+11C>T | |
| ENST00000448880.6:c.749+11C>T | ENSP00000408224.2:n.749+11C>T | |
| ENST00000476216.6:n.3888+11C>T | ||
| ENST00000620965.5:c.797+11C>T | ENSP00000480897.2:n.797+11C>T | |
| ENST00000676491.1:c.749+11C>T | ENSP00000504528.1:n.749+11C>T | |
| ENST00000676782.1:c.749+11C>T | ENSP00000504717.1:n.749+11C>T | |
| ENST00000676784.1:n.3877+11C>T | ||
| ENST00000676929.1:c.749+11C>T | ENSP00000503956.1:n.749+11C>T | |
| ENST00000677057.1:n.3887+11C>T | ||
| ENST00000677114.1:c.548-4236C>T | ENSP00000504818.1:n.548-4236C>T | |
| ENST00000677155.1:c.548-4236C>T | ENSP00000502921.1:n.548-4236C>T | |
| ENST00000677263.1:c.749+11C>T | ENSP00000503790.1:n.749+11C>T | |
| ENST00000677294.1:c.639+3163C>T | ENSP00000503461.1:n.639+3163C>T | |
| ENST00000677368.1:c.548-4236C>T | ENSP00000502983.1:n.548-4236C>T | |
| ENST00000677395.1:c.*2445+11C>T | ENSP00000502890.1:n.*2445+11C>T | |
| ENST00000677407.1:c.749+11C>T | ENSP00000503141.1:n.749+11C>T | |
| ENST00000677490.1:c.749+11C>T | ENSP00000503255.1:n.749+11C>T | |
| ENST00000677567.1:c.749+11C>T | ENSP00000503217.1:n.749+11C>T | |
| ENST00000677692.1:n.3887+11C>T | ||
| ENST00000677764.1:c.749+11C>T | ENSP00000504547.1:n.749+11C>T | |
| ENST00000677979.1:c.*228+11C>T | ENSP00000503341.1:n.*228+11C>T | |
| ENST00000678158.1:c.749+11C>T | ENSP00000504765.1:n.749+11C>T | |
| ENST00000678188.1:n.3970+11C>T | ||
| ENST00000678289.1:c.749+11C>T | ENSP00000504063.1:n.749+11C>T | |
| ENST00000678455.1:c.746+11C>T | ENSP00000504395.1:n.746+11C>T | |
| ENST00000678468.1:c.*82+11C>T | ENSP00000503925.1:n.*82+11C>T | |
| ENST00000678562.1:c.*3584+11C>T | ENSP00000502954.1:n.*3584+11C>T | |
| ENST00000678737.1:c.749+11C>T | ENSP00000503770.1:n.749+11C>T | |
| ENST00000678832.1:c.*405+11C>T | ENSP00000502992.1:n.*405+11C>T | |
| ENST00000678898.1:n.3887+11C>T | ||
| ENST00000678914.1:c.647+11C>T | ENSP00000504515.1:n.647+11C>T | |
| ENST00000679158.1:c.749+11C>T | ENSP00000503837.1:n.749+11C>T | |
| ENST00000679183.1:c.749+11C>T | ENSP00000503016.1:n.749+11C>T | |
| ENST00000679308.1:c.749+11C>T | ENSP00000503148.1:n.749+11C>T | |
| ENST00000679332.1:n.3887+11C>T | ||
| ENST00000252711.6:c.749+11C>T | ENSP00000252711.2:n.749+11C>T | |
| ENST00000307300.8:c.839+11C>T | ENSP00000302321.4:n.839+11C>T | |
| ENST00000404554.5:c.749+11C>T | ENSP00000385697.1:n.749+11C>T | |
| ENST00000419408.5:c.44+11C>T | ENSP00000408055.1:n.44+11C>T | |
| ENST00000443626.5:c.548-4236C>T | ENSP00000411527.1:n.548-4236C>T | |
| ENST00000444548.5:c.60+11C>T | ||
| ENST00000448880.5:c.38+11C>T | ENSP00000408224.1:n.38+11C>T | |
| ENST00000476216.5:n.111+11C>T | ||
| ENST00000485344.6:n.3813+11C>T | ||
| ENST00000620965.4:c.749+11C>T | ENSP00000480897.1:n.749+11C>T | |
| NM_004544.3:c.749+11C>T | NP_004535.1:n.749+11C>T | |
| XM_006712543.1:c.749+11C>T | XP_006712606.1:n.749+11C>T | |
| XM_011511228.1:c.749+11C>T | XP_011509530.1:n.749+11C>T | |
| XM_011511229.1:c.749+11C>T | XP_011509531.1:n.749+11C>T | |
| NM_001322019.1:c.749+11C>T | NP_001308948.1:n.749+11C>T | |
| NM_001322020.1:c.749+11C>T | NP_001308949.1:n.749+11C>T | |
| NR_136155.1:n.3892+11C>T | ||
| NR_136156.1:n.3892+11C>T | ||
| NR_136157.1:n.3723+11C>T | ||
| NR_136158.1:n.3892+11C>T | ||
| XM_011511228.3:c.749+11C>T | XP_011509530.1:n.749+11C>T | |
| XR_001738750.2:n.791+11C>T | ||
| NM_004544.4:c.749+11C>T MANE Select | NP_004535.1:n.749+11C>T | |
| NM_001322020.2:c.749+11C>T | NP_001308949.1:n.749+11C>T | |
| NR_136155.2:n.3832+11C>T | ||
| NR_136156.2:n.3832+11C>T | ||
| NR_136157.2:n.3663+11C>T | ||
| NR_136158.2:n.3832+11C>T | ||
| NM_001322019.2:c.749+11C>T | NP_001308948.1:n.749+11C>T |