gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.81141777C>A , CM000666.2:g.81141777C>A | GRCh38 |
| NC_000004.11:g.82062931C>A , CM000666.1:g.82062931C>A | GRCh37 |
| NC_000004.10:g.82281955C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264399.6:c.1407+1017G>T MANE Select | ENSP00000264399.1:n.1407+1017G>T | |
| ENST00000264399.5:c.1407+1017G>T | ENSP00000264399.1:n.1407+1017G>T | |
| ENST00000395578.3:c.1407+1017G>T | ENSP00000378945.1:n.1407+1017G>T | |
| ENST00000456882.2:n.451+1104G>T | ||
| ENST00000509169.5:n.677+1017G>T | ||
| ENST00000509474.5:n.647+1017G>T | ||
| ENST00000545647.5:c.147+1017G>T | ENSP00000439967.1:n.147+1017G>T | |
| ENST00000628926.1:c.1320+1104G>T | ENSP00000486129.1:n.1320+1104G>T | |
| NM_001282480.1:c.147+1017G>T | NP_001269409.1:n.147+1017G>T | |
| NM_001282481.1:c.147+1017G>T | NP_001269410.1:n.147+1017G>T | |
| NM_001282482.1:c.60+1104G>T | NP_001269411.1:n.60+1104G>T | |
| NM_001282483.1:c.-34+1040G>T | NP_001269412.1:n.-34+1040G>T | |
| NM_001282485.1:c.1320+1104G>T | NP_001269414.1:n.1320+1104G>T | |
| NM_006259.2:c.1407+1017G>T | NP_006250.1:n.1407+1017G>T | |
| XM_005263126.2:c.1407+1017G>T | XP_005263183.1:n.1407+1017G>T | |
| XM_006714266.2:c.-34+838G>T | XP_006714329.1:n.-34+838G>T | |
| XM_011532114.1:c.1407+1017G>T | XP_011530416.1:n.1407+1017G>T | |
| XM_011532115.1:c.1407+1017G>T | XP_011530417.1:n.1407+1017G>T | |
| XM_011532116.1:c.1384+1040G>T | XP_011530418.1:n.1384+1040G>T | |
| NM_001363401.1:c.1407+1017G>T | NP_001350330.1:n.1407+1017G>T | |
| XM_017008413.1:c.1407+1017G>T | XP_016863902.1:n.1407+1017G>T | |
| XM_017008414.1:c.1407+1017G>T | XP_016863903.1:n.1407+1017G>T | |
| XM_017008415.1:c.1407+1017G>T | XP_016863904.1:n.1407+1017G>T | |
| XM_017008416.1:c.1407+1017G>T | XP_016863905.1:n.1407+1017G>T | |
| XM_017008417.1:c.1320+1104G>T | XP_016863906.1:n.1320+1104G>T | |
| XM_017008418.1:c.1384+1040G>T | XP_016863907.1:n.1384+1040G>T | |
| NM_001282485.2:c.1320+1104G>T | NP_001269414.1:n.1320+1104G>T | |
| NM_001363401.2:c.1407+1017G>T | NP_001350330.1:n.1407+1017G>T | |
| NM_006259.3:c.1407+1017G>T MANE Select | NP_006250.1:n.1407+1017G>T |