Linked Data
dbSNP Id:
rs182092905
ExAC:
11:9163702 A / G
gnomAD v2:
11-9163702-A-G
gnomAD v3:
11-9142155-A-G
gnomAD v4:
11-9142155-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9142155A>G , CM000673.2:g.9142155A>G | GRCh38 |
| NC_000011.9:g.9163702A>G , CM000673.1:g.9163702A>G | GRCh37 |
| NC_000011.8:g.9120278A>G | NCBI36 |
| NG_053019.1:g.128181T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328194.8:c.3512-47T>C MANE Select | ENSP00000328524.3:n.3512-47T>C | |
| ENST00000525784.6:n.1374-47T>C | ||
| ENST00000530780.2:c.*3338-47T>C | ENSP00000433925.1:n.*3338-47T>C | |
| ENST00000531747.2:n.3183-47T>C | ||
| ENST00000679446.1:n.3433-47T>C | ||
| ENST00000679458.1:n.4913-47T>C | ||
| ENST00000679460.1:n.4574-47T>C | ||
| ENST00000679568.1:c.3512-47T>C | ENSP00000505860.1:n.3512-47T>C | |
| ENST00000679745.1:n.4017-47T>C | ||
| ENST00000679773.1:n.2673-47T>C | ||
| ENST00000679926.1:n.4814-47T>C | ||
| ENST00000679999.1:c.*569-47T>C | ENSP00000505198.1:n.*569-47T>C | |
| ENST00000680252.1:c.3179-47T>C | ||
| ENST00000680294.1:c.3305-47T>C | ENSP00000506113.1:n.3305-47T>C | |
| ENST00000680358.1:n.2811-47T>C | ||
| ENST00000680470.1:c.*1293-47T>C | ENSP00000505975.1:n.*1293-47T>C | |
| ENST00000680554.1:c.*45-47T>C | ENSP00000505621.1:n.*45-47T>C | |
| ENST00000680576.1:n.4988-47T>C | ||
| ENST00000680599.1:n.3553-47T>C | ||
| ENST00000680742.1:c.*45-47T>C | ENSP00000505206.1:n.*45-47T>C | |
| ENST00000680791.1:n.2396-47T>C | ||
| ENST00000680885.1:n.5167T>C | ||
| ENST00000681158.1:c.3096-47T>C | ||
| ENST00000681203.1:c.3440-47T>C | ENSP00000506456.1:n.3440-47T>C | |
| ENST00000681371.1:n.3384-47T>C | ||
| ENST00000681425.1:n.3990-47T>C | ||
| ENST00000681639.1:n.1744T>C | ||
| ENST00000328194.7:c.3512-47T>C | ENSP00000328524.3:n.3512-47T>C | |
| ENST00000525784.5:c.448-47T>C | ||
| ENST00000527700.5:n.3074-47T>C | ||
| ENST00000528725.5:c.208-47T>C | ||
| ENST00000529977.5:n.1413-47T>C | ||
| ENST00000530044.5:c.3512-47T>C | ENSP00000435866.1:n.3512-47T>C | |
| ENST00000531747.1:c.748-47T>C | ||
| ENST00000533737.5:c.175-47T>C | ||
| NM_001243254.1:c.3512-47T>C | NP_001230183.1:n.3512-47T>C | |
| NM_015213.3:c.3512-47T>C | NP_056028.2:n.3512-47T>C | |
| XM_005252832.1:c.3512-47T>C | XP_005252889.1:n.3512-47T>C | |
| XM_011519952.1:c.3512-47T>C | XP_011518254.1:n.3512-47T>C | |
| XM_011519953.1:c.1610-47T>C | XP_011518255.1:n.1610-47T>C | |
| XR_242782.2:n.3694-47T>C | ||
| XR_930851.1:n.3694-47T>C | ||
| NM_001348749.1:c.3440-47T>C | NP_001335678.1:n.3440-47T>C | |
| NM_001348750.1:c.3224-47T>C | NP_001335679.1:n.3224-47T>C | |
| NR_145966.2:n.3686-47T>C | ||
| NM_015213.4:c.3512-47T>C MANE Select | NP_056028.2:n.3512-47T>C | |
| NM_001243254.2:c.3512-47T>C | NP_001230183.1:n.3512-47T>C | |
| NM_001348749.2:c.3440-47T>C | NP_001335678.1:n.3440-47T>C | |
| NM_001348750.2:c.3224-47T>C | NP_001335679.1:n.3224-47T>C |