Linked Data
ClinVar Variation Id:
385863
dbSNP Id:
rs77801349
ExAC:
19:41198952 C / T
gnomAD v2:
19-41198952-C-T
gnomAD v3:
19-40693047-C-T
gnomAD v4:
19-40693047-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40693047C>T , CM000681.2:g.40693047C>T | GRCh38 |
| NC_000019.9:g.41198952C>T , CM000681.1:g.41198952C>T | GRCh37 |
| NC_000019.8:g.45890792C>T | NCBI36 |
| NG_027800.1:g.28839G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324464.8:c.1210-10G>A MANE Select | ENSP00000315118.3:n.1210-10G>A | |
| ENST00000593724.2:n.3033-10G>A | ||
| ENST00000594490.6:c.1132-10G>A | ENSP00000471310.2:n.1132-10G>A | |
| ENST00000594720.6:c.1210-10G>A | ENSP00000470876.2:n.1210-10G>A | |
| ENST00000596455.6:n.1502-10G>A | ||
| ENST00000601967.6:c.1210-10G>A | ENSP00000470916.2:n.1210-10G>A | |
| ENST00000676555.1:c.*635-10G>A | ENSP00000503387.1:n.*635-10G>A | |
| ENST00000676578.1:c.*952-10G>A | ENSP00000504076.1:n.*952-10G>A | |
| ENST00000676960.1:n.1335-10G>A | ||
| ENST00000676962.1:n.1489-10G>A | ||
| ENST00000677018.1:c.1210-10G>A | ENSP00000503480.1:n.1210-10G>A | |
| ENST00000677039.1:n.3413-10G>A | ||
| ENST00000677399.1:n.1652-10G>A | ||
| ENST00000677496.1:c.883-10G>A | ENSP00000504773.1:n.883-10G>A | |
| ENST00000677517.1:c.883-10G>A | ENSP00000503519.1:n.883-10G>A | |
| ENST00000677633.1:c.*633-10G>A | ENSP00000503645.1:n.*633-10G>A | |
| ENST00000677800.1:c.*4314-10G>A | ENSP00000503794.1:n.*4314-10G>A | |
| ENST00000678057.1:c.*774-10G>A | ENSP00000503762.1:n.*774-10G>A | |
| ENST00000678119.1:n.1404-10G>A | ||
| ENST00000678166.1:n.1353-10G>A | ||
| ENST00000678312.1:n.1547-10G>A | ||
| ENST00000678316.1:c.*633-10G>A | ENSP00000504112.1:n.*633-10G>A | |
| ENST00000678371.1:n.1660-10G>A | ||
| ENST00000678404.1:c.1210-10G>A | ENSP00000503944.1:n.1210-10G>A | |
| ENST00000678419.1:c.1210-10G>A | ENSP00000504085.1:n.1210-10G>A | |
| ENST00000678433.1:n.1566-10G>A | ||
| ENST00000678467.1:c.1210-10G>A | ENSP00000504072.1:n.1210-10G>A | |
| ENST00000678569.1:c.*195-10G>A | ENSP00000504261.1:n.*195-10G>A | |
| ENST00000678961.1:n.1565-10G>A | ||
| ENST00000679002.1:n.1389-10G>A | ||
| ENST00000679012.1:c.766-10G>A | ENSP00000504446.1:n.766-10G>A | |
| ENST00000679070.1:c.*629-10G>A | ENSP00000503759.1:n.*629-10G>A | |
| ENST00000679130.1:c.1210-10G>A | ENSP00000504845.1:n.1210-10G>A | |
| ENST00000679315.1:c.*1040-10G>A | ENSP00000503065.1:n.*1040-10G>A | |
| ENST00000243583.10:c.1087-10G>A | ENSP00000243583.5:n.1087-10G>A | |
| ENST00000324464.7:c.1210-10G>A | ENSP00000315118.3:n.1210-10G>A | |
| ENST00000593724.1:n.1325-10G>A | ||
| NM_001142555.2:c.1087-10G>A | NP_001136027.1:n.1087-10G>A | |
| NM_024876.3:c.1210-10G>A | NP_079152.3:n.1210-10G>A | |
| XM_005259270.3:c.1372-10G>A | XP_005259327.2:n.1372-10G>A | |
| XM_005259271.3:c.1210-10G>A | XP_005259328.1:n.1210-10G>A | |
| XM_005259272.3:c.1210-10G>A | XP_005259329.1:n.1210-10G>A | |
| XM_005259273.3:c.1210-10G>A | XP_005259330.1:n.1210-10G>A | |
| XM_006723392.2:c.1210-10G>A | XP_006723455.1:n.1210-10G>A | |
| XM_006723393.2:c.1210-10G>A | XP_006723456.1:n.1210-10G>A | |
| XM_011527334.1:c.1210-10G>A | XP_011525636.1:n.1210-10G>A | |
| XM_011527335.1:c.1069-10G>A | XP_011525637.1:n.1069-10G>A | |
| XM_011527336.1:c.1240-10G>A | XP_011525638.1:n.1240-10G>A | |
| XM_011527337.1:c.1210-10G>A | XP_011525639.1:n.1210-10G>A | |
| XM_011527338.1:c.1210-10G>A | XP_011525640.1:n.1210-10G>A | |
| NM_024876.4:c.1210-10G>A MANE Select | NP_079152.3:n.1210-10G>A | |
| NM_001142555.3:c.1087-10G>A | NP_001136027.1:n.1087-10G>A |