Linked Data
dbSNP Id:
rs1229934839
gnomAD v2:
11-9163342-A-T
gnomAD v3:
11-9141795-A-T
gnomAD v4:
11-9141795-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9141795A>T , CM000673.2:g.9141795A>T | GRCh38 |
| NC_000011.9:g.9163342A>T , CM000673.1:g.9163342A>T | GRCh37 |
| NC_000011.8:g.9119918A>T | NCBI36 |
| NG_053019.1:g.128541T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328194.8:c.3680+145T>A MANE Select | ENSP00000328524.3:n.3680+145T>A | |
| ENST00000525784.6:n.1542+145T>A | ||
| ENST00000530780.2:c.*3506+145T>A | ENSP00000433925.1:n.*3506+145T>A | |
| ENST00000531747.2:n.3351+145T>A | ||
| ENST00000679446.1:n.3746T>A | ||
| ENST00000679458.1:n.5081+145T>A | ||
| ENST00000679460.1:n.4742+145T>A | ||
| ENST00000679568.1:c.3680+145T>A | ENSP00000505860.1:n.3680+145T>A | |
| ENST00000679745.1:n.4185+145T>A | ||
| ENST00000679773.1:n.2841+145T>A | ||
| ENST00000679926.1:n.4982+145T>A | ||
| ENST00000679999.1:c.*737+145T>A | ENSP00000505198.1:n.*737+145T>A | |
| ENST00000680252.1:c.3347+145T>A | ||
| ENST00000680294.1:c.3473+145T>A | ENSP00000506113.1:n.3473+145T>A | |
| ENST00000680358.1:n.2979+145T>A | ||
| ENST00000680470.1:c.*1461+145T>A | ENSP00000505975.1:n.*1461+145T>A | |
| ENST00000680554.1:c.*213+145T>A | ENSP00000505621.1:n.*213+145T>A | |
| ENST00000680576.1:n.5301T>A | ||
| ENST00000680599.1:n.3721+145T>A | ||
| ENST00000680742.1:c.*179+179T>A | ENSP00000505206.1:n.*179+179T>A | |
| ENST00000680791.1:n.2564+145T>A | ||
| ENST00000680885.1:n.5382+145T>A | ||
| ENST00000681158.1:c.3264+145T>A | ||
| ENST00000681203.1:c.3608+145T>A | ENSP00000506456.1:n.3608+145T>A | |
| ENST00000681371.1:n.3552+145T>A | ||
| ENST00000681425.1:n.4158+145T>A | ||
| ENST00000681639.1:n.1959+145T>A | ||
| ENST00000328194.7:c.3680+145T>A | ENSP00000328524.3:n.3680+145T>A | |
| ENST00000525784.5:c.616+145T>A | ||
| ENST00000527700.5:n.3242+145T>A | ||
| ENST00000528725.5:c.376+145T>A | ||
| ENST00000529977.5:n.1581+145T>A | ||
| ENST00000530044.5:c.3646+179T>A | ENSP00000435866.1:n.3646+179T>A | |
| ENST00000533737.5:c.343+145T>A | ||
| NM_001243254.1:c.3646+179T>A | NP_001230183.1:n.3646+179T>A | |
| NM_015213.3:c.3680+145T>A | NP_056028.2:n.3680+145T>A | |
| XM_005252832.1:c.3680+145T>A | XP_005252889.1:n.3680+145T>A | |
| XM_011519952.1:c.3646+179T>A | XP_011518254.1:n.3646+179T>A | |
| XM_011519953.1:c.1778+145T>A | XP_011518255.1:n.1778+145T>A | |
| XR_242782.2:n.3862+145T>A | ||
| XR_930851.1:n.3828+179T>A | ||
| NM_001348749.1:c.3608+145T>A | NP_001335678.1:n.3608+145T>A | |
| NM_001348750.1:c.3392+145T>A | NP_001335679.1:n.3392+145T>A | |
| NR_145966.2:n.3854+145T>A | ||
| NM_015213.4:c.3680+145T>A MANE Select | NP_056028.2:n.3680+145T>A | |
| NM_001243254.2:c.3646+179T>A | NP_001230183.1:n.3646+179T>A | |
| NM_001348749.2:c.3608+145T>A | NP_001335678.1:n.3608+145T>A | |
| NM_001348750.2:c.3392+145T>A | NP_001335679.1:n.3392+145T>A |