Linked Data
dbSNP Id:
rs1430252343
gnomAD v2:
15-75182508-G-T
gnomAD v3:
15-74890167-G-T
gnomAD v4:
15-74890167-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74890167G>T , CM000677.2:g.74890167G>T | GRCh38 |
| NC_000015.9:g.75182508G>T , CM000677.1:g.75182508G>T | GRCh37 |
| NC_000015.8:g.72969561G>T | NCBI36 |
| NG_008921.1:g.5099G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352410.9:c.16+78G>T MANE Select | ENSP00000318318.6:n.16+78G>T | |
| ENST00000323744.10:c.16+78G>T | ENSP00000318192.6:n.16+78G>T | |
| ENST00000352410.8:c.16+78G>T | ENSP00000318318.6:n.16+78G>T | |
| ENST00000535694.5:c.-7+78G>T | ENSP00000440447.1:n.-7+78G>T | |
| ENST00000561470.5:c.94G>T | ENSP00000454267.1:p.Val32Phe | |
| ENST00000562606.5:c.-19+78G>T | ENSP00000457020.1:n.-19+78G>T | |
| ENST00000562800.5:c.16+78G>T | ENSP00000457619.1:n.16+78G>T | |
| ENST00000563422.5:c.16+78G>T | ENSP00000457885.1:n.16+78G>T | |
| ENST00000563786.5:c.-134+78G>T | ENSP00000455241.1:n.-134+78G>T | |
| ENST00000564003.5:c.-7+78G>T | ENSP00000454312.1:n.-7+78G>T | |
| ENST00000564633.5:c.-16+78G>T | ENSP00000455383.1:n.-16+78G>T | |
| ENST00000565576.5:c.16+78G>T | ENSP00000454619.1:n.16+78G>T | |
| ENST00000566377.5:c.16+78G>T | ENSP00000455405.1:n.16+78G>T | |
| ENST00000567116.5:n.47+78G>T | ||
| ENST00000567132.5:c.16+78G>T | ENSP00000455972.1:n.16+78G>T | |
| ENST00000567570.5:c.-404G>T | ENSP00000455477.1:n.-404G>T | |
| ENST00000568303.1:n.44+78G>T | ||
| ENST00000568828.5:c.16+78G>T | ENSP00000455065.1:n.16+78G>T | |
| ENST00000568840.1:n.91G>T | ||
| ENST00000568907.5:c.16+78G>T | ENSP00000457494.1:n.16+78G>T | |
| ENST00000569233.5:c.16+78G>T | ENSP00000454622.1:n.16+78G>T | |
| ENST00000569931.5:c.-19+78G>T | ENSP00000455161.1:n.-19+78G>T | |
| NM_001289155.1:c.16+78G>T | NP_001276084.1:n.16+78G>T | |
| NM_001289156.1:c.-7+78G>T | NP_001276085.1:n.-7+78G>T | |
| NM_001289157.1:c.16+78G>T | NP_001276086.1:n.16+78G>T | |
| NM_002435.2:c.16+78G>T | NP_002426.1:n.16+78G>T | |
| XM_011521592.1:c.-31G>T | XP_011519894.1:n.-31G>T | |
| XM_011521593.1:c.-134+78G>T | XP_011519895.1:n.-134+78G>T | |
| NM_001330372.1:c.-134+78G>T | NP_001317301.1:n.-134+78G>T | |
| XM_017022208.1:c.-134+78G>T | XP_016877697.1:n.-134+78G>T | |
| XM_017022209.2:c.-7+78G>T | XP_016877698.1:n.-7+78G>T | |
| NM_002435.3:c.16+78G>T MANE Select | NP_002426.1:n.16+78G>T | |
| NM_001289155.2:c.16+78G>T | NP_001276084.1:n.16+78G>T | |
| NM_001289156.2:c.-7+78G>T | NP_001276085.1:n.-7+78G>T | |
| NM_001289157.2:c.16+78G>T | NP_001276086.1:n.16+78G>T | |
| NM_001330372.2:c.-134+78G>T | NP_001317301.1:n.-134+78G>T |