Linked Data
dbSNP Id:
rs866752020
gnomAD v2:
11-9163520-C-T
gnomAD v3:
11-9141973-C-T
gnomAD v4:
11-9141973-C-T
PubMed:
PMID:25363760
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9141973C>T , CM000673.2:g.9141973C>T | GRCh38 |
| NC_000011.9:g.9163520C>T , CM000673.1:g.9163520C>T | GRCh37 |
| NC_000011.8:g.9120096C>T | NCBI36 |
| NG_053019.1:g.128363G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328194.8:c.3647G>A MANE Select | ENSP00000328524.3:p.Gly1216Asp | |
| ENST00000525784.6:n.1509G>A | ||
| ENST00000530780.2:c.*3473G>A | ENSP00000433925.1:n.*3473G>A | |
| ENST00000531747.2:n.3318G>A | ||
| ENST00000679446.1:n.3568G>A | ||
| ENST00000679458.1:n.5048G>A | ||
| ENST00000679460.1:n.4709G>A | ||
| ENST00000679568.1:c.3647G>A | ENSP00000505860.1:p.Gly1216Asp | |
| ENST00000679745.1:n.4152G>A | ||
| ENST00000679773.1:n.2808G>A | ||
| ENST00000679926.1:n.4949G>A | ||
| ENST00000679999.1:c.*704G>A | ENSP00000505198.1:n.*704G>A | |
| ENST00000680252.1:c.3314G>A | ||
| ENST00000680294.1:c.3440G>A | ENSP00000506113.1:p.Gly1147Asp | |
| ENST00000680358.1:n.2946G>A | ||
| ENST00000680470.1:c.*1428G>A | ENSP00000505975.1:n.*1428G>A | |
| ENST00000680554.1:c.*180G>A | ENSP00000505621.1:n.*180G>A | |
| ENST00000680576.1:n.5123G>A | ||
| ENST00000680599.1:n.3688G>A | ||
| ENST00000680742.1:c.*179+1G>A | ENSP00000505206.1:n.*179+1G>A | |
| ENST00000680791.1:n.2531G>A | ||
| ENST00000680885.1:n.5349G>A | ||
| ENST00000681158.1:c.3231G>A | ||
| ENST00000681203.1:c.3575G>A | ENSP00000506456.1:p.Gly1192Asp | |
| ENST00000681371.1:n.3519G>A | ||
| ENST00000681425.1:n.4125G>A | ||
| ENST00000681639.1:n.1926G>A | ||
| ENST00000328194.7:c.3647G>A | ENSP00000328524.3:p.Gly1216Asp | |
| ENST00000525784.5:c.583G>A | ||
| ENST00000527700.5:n.3209G>A | ||
| ENST00000528725.5:c.343G>A | ||
| ENST00000529977.5:n.1548G>A | ||
| ENST00000530044.5:c.3646+1G>A | ENSP00000435866.1:n.3646+1G>A | |
| ENST00000531747.1:c.883G>A | ||
| ENST00000533737.5:c.310G>A | ||
| NM_001243254.1:c.3646+1G>A | NP_001230183.1:n.3646+1G>A | |
| NM_015213.3:c.3647G>A | NP_056028.2:p.Gly1216Asp | |
| XM_005252832.1:c.3647G>A | XP_005252889.1:p.Gly1216Asp | |
| XM_011519952.1:c.3646+1G>A | XP_011518254.1:n.3646+1G>A | |
| XM_011519953.1:c.1745G>A | XP_011518255.1:p.Gly582Asp | |
| XR_242782.2:n.3829G>A | ||
| XR_930851.1:n.3828+1G>A | ||
| NM_001348749.1:c.3575G>A | NP_001335678.1:p.Gly1192Asp | |
| NM_001348750.1:c.3359G>A | NP_001335679.1:p.Gly1120Asp | |
| NR_145966.2:n.3821G>A | ||
| NM_015213.4:c.3647G>A MANE Select | NP_056028.2:p.Gly1216Asp | |
| NM_001243254.2:c.3646+1G>A | NP_001230183.1:n.3646+1G>A | |
| NM_001348749.2:c.3575G>A | NP_001335678.1:p.Gly1192Asp | |
| NM_001348750.2:c.3359G>A | NP_001335679.1:p.Gly1120Asp |