Linked Data
ClinVar Variation Id:
449284
dbSNP Id:
rs1287655964
gnomAD v3:
18-62072672-C-A
gnomAD v4:
18-62072672-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.62072672C>A , CM000680.2:g.62072672C>A | GRCh38 |
| NC_000018.9:g.59739905C>A , CM000680.1:g.59739905C>A | GRCh37 |
| NC_000018.8:g.57890885C>A | NCBI36 |
| NG_033144.1:g.119385G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357637.10:c.2672+1G>T | ENSP00000350263.4:n.2672+1G>T | |
| ENST00000638167.1:c.2270+1G>T | ENSP00000491549.1:n.2270+1G>T | |
| ENST00000638183.1:c.2672+1G>T | ENSP00000491013.1:n.2672+1G>T | |
| ENST00000638369.1:c.2489+1G>T | ENSP00000491811.1:n.2489+1G>T | |
| ENST00000638424.1:c.*640+1G>T | ENSP00000491963.1:n.*640+1G>T | |
| ENST00000638435.1:c.2441+1G>T | ENSP00000491850.1:n.2441+1G>T | |
| ENST00000638858.1:n.2651+1G>T | ||
| ENST00000638904.1:c.*352+1G>T | ENSP00000491318.1:n.*352+1G>T | |
| ENST00000638936.1:c.2672+1G>T | ENSP00000492592.1:n.2672+1G>T | |
| ENST00000638977.1:c.2612+1G>T | ENSP00000491010.1:n.2612+1G>T | |
| ENST00000639174.1:c.2672+1G>T | ENSP00000492783.1:n.2672+1G>T | |
| ENST00000639342.1:c.2420+1G>T | ENSP00000491022.1:n.2420+1G>T | |
| ENST00000639372.1:c.615+1G>T | ||
| ENST00000639491.1:n.1302+1G>T | ||
| ENST00000639600.1:c.2142+1G>T | ||
| ENST00000639681.1:c.*1929+1G>T | ENSP00000491929.1:n.*1929+1G>T | |
| ENST00000639758.1:c.2612+1G>T | ENSP00000491475.1:n.2612+1G>T | |
| ENST00000639902.1:c.2672+1G>T | ENSP00000490965.1:n.2672+1G>T | |
| ENST00000639912.1:c.2612+1G>T | ENSP00000490970.1:n.2612+1G>T | |
| ENST00000640050.1:c.2672+1G>T | ENSP00000492051.1:n.2672+1G>T | |
| ENST00000640145.1:c.2672+1G>T | ENSP00000491525.1:n.2672+1G>T | |
| ENST00000640170.1:c.*2032+1G>T | ENSP00000491270.1:n.*2032+1G>T | |
| ENST00000640248.1:n.1175+1G>T | ||
| ENST00000640252.2:c.2672+1G>T MANE Select | ENSP00000492233.1:n.2672+1G>T | |
| ENST00000640268.1:c.*817+1G>T | ENSP00000491111.1:n.*817+1G>T | |
| ENST00000640540.1:c.2672+1G>T | ENSP00000491620.1:n.2672+1G>T | |
| ENST00000640593.1:c.*1630+1G>T | ENSP00000492017.1:n.*1630+1G>T | |
| ENST00000640682.1:c.1487+1G>T | ENSP00000491415.1:n.1487+1G>T | |
| ENST00000640704.1:n.457G>T | ||
| ENST00000640876.1:c.2672+1G>T | ENSP00000491628.1:n.2672+1G>T | |
| ENST00000357637.9:c.2672+1G>T | ENSP00000350263.4:n.2672+1G>T | |
| ENST00000400334.7:c.2672+1G>T | ENSP00000383188.2:n.2672+1G>T | |
| ENST00000587942.1:n.1494+1G>T | ||
| NM_012327.5:c.2672+1G>T | NP_036459.1:n.2672+1G>T | |
| NM_176787.4:c.2672+1G>T | NP_789744.1:n.2672+1G>T | |
| XM_011525889.1:c.2672+1G>T | XP_011524191.1:n.2672+1G>T | |
| XM_011525890.1:c.2672+1G>T | XP_011524192.1:n.2672+1G>T | |
| XM_011525891.1:c.2672+1G>T | XP_011524193.1:n.2672+1G>T | |
| XM_011525892.1:c.2672+1G>T | XP_011524194.1:n.2672+1G>T | |
| XM_011525893.1:c.2672+1G>T | XP_011524195.1:n.2672+1G>T | |
| XM_011525894.1:c.2672+1G>T | XP_011524196.1:n.2672+1G>T | |
| XM_011525895.1:c.2672+1G>T | XP_011524197.1:n.2672+1G>T | |
| XM_011525896.1:c.2672+1G>T | XP_011524198.1:n.2672+1G>T | |
| XM_011525897.1:c.2612+1G>T | XP_011524199.1:n.2612+1G>T | |
| XM_011525898.1:c.2672+1G>T | XP_011524200.1:n.2672+1G>T | |
| XM_017025685.1:c.2270+1G>T | XP_016881174.1:n.2270+1G>T | |
| XM_017025686.1:c.2270+1G>T | XP_016881175.1:n.2270+1G>T | |
| NM_176787.5:c.2672+1G>T MANE Select | NP_789744.1:n.2672+1G>T | |
| NM_012327.6:c.2672+1G>T | NP_036459.1:n.2672+1G>T |