Linked Data
dbSNP Id:
rs757754604
ExAC:
11:9163626 C / G
gnomAD v2:
11-9163626-C-G
gnomAD v4:
11-9142079-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9142079C>G , CM000673.2:g.9142079C>G | GRCh38 |
| NC_000011.9:g.9163626C>G , CM000673.1:g.9163626C>G | GRCh37 |
| NC_000011.8:g.9120202C>G | NCBI36 |
| NG_053019.1:g.128257G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328194.8:c.3541G>C MANE Select | ENSP00000328524.3:p.Glu1181Gln | |
| ENST00000525784.6:n.1403G>C | ||
| ENST00000530780.2:c.*3367G>C | ENSP00000433925.1:n.*3367G>C | |
| ENST00000531747.2:n.3212G>C | ||
| ENST00000679446.1:n.3462G>C | ||
| ENST00000679458.1:n.4942G>C | ||
| ENST00000679460.1:n.4603G>C | ||
| ENST00000679568.1:c.3541G>C | ENSP00000505860.1:p.Glu1181Gln | |
| ENST00000679745.1:n.4046G>C | ||
| ENST00000679773.1:n.2702G>C | ||
| ENST00000679926.1:n.4843G>C | ||
| ENST00000679999.1:c.*598G>C | ENSP00000505198.1:n.*598G>C | |
| ENST00000680252.1:c.3208G>C | ||
| ENST00000680294.1:c.3334G>C | ENSP00000506113.1:p.Glu1112Gln | |
| ENST00000680358.1:n.2840G>C | ||
| ENST00000680470.1:c.*1322G>C | ENSP00000505975.1:n.*1322G>C | |
| ENST00000680554.1:c.*74G>C | ENSP00000505621.1:n.*74G>C | |
| ENST00000680576.1:n.5017G>C | ||
| ENST00000680599.1:n.3582G>C | ||
| ENST00000680742.1:c.*74G>C | ENSP00000505206.1:n.*74G>C | |
| ENST00000680791.1:n.2425G>C | ||
| ENST00000680885.1:n.5243G>C | ||
| ENST00000681158.1:c.3125G>C | ||
| ENST00000681203.1:c.3469G>C | ENSP00000506456.1:p.Glu1157Gln | |
| ENST00000681371.1:n.3413G>C | ||
| ENST00000681425.1:n.4019G>C | ||
| ENST00000681639.1:n.1820G>C | ||
| ENST00000328194.7:c.3541G>C | ENSP00000328524.3:p.Glu1181Gln | |
| ENST00000525784.5:c.477G>C | ||
| ENST00000527700.5:n.3103G>C | ||
| ENST00000528725.5:c.237G>C | ||
| ENST00000529977.5:n.1442G>C | ||
| ENST00000530044.5:c.3541G>C | ENSP00000435866.1:p.Glu1181Gln | |
| ENST00000531747.1:c.777G>C | ||
| ENST00000533737.5:c.204G>C | ||
| NM_001243254.1:c.3541G>C | NP_001230183.1:p.Glu1181Gln | |
| NM_015213.3:c.3541G>C | NP_056028.2:p.Glu1181Gln | |
| XM_005252832.1:c.3541G>C | XP_005252889.1:p.Glu1181Gln | |
| XM_011519952.1:c.3541G>C | XP_011518254.1:p.Glu1181Gln | |
| XM_011519953.1:c.1639G>C | XP_011518255.1:p.Glu547Gln | |
| XR_242782.2:n.3723G>C | ||
| XR_930851.1:n.3723G>C | ||
| NM_001348749.1:c.3469G>C | NP_001335678.1:p.Glu1157Gln | |
| NM_001348750.1:c.3253G>C | NP_001335679.1:p.Glu1085Gln | |
| NR_145966.2:n.3715G>C | ||
| NM_015213.4:c.3541G>C MANE Select | NP_056028.2:p.Glu1181Gln | |
| NM_001243254.2:c.3541G>C | NP_001230183.1:p.Glu1181Gln | |
| NM_001348749.2:c.3469G>C | NP_001335678.1:p.Glu1157Gln | |
| NM_001348750.2:c.3253G>C | NP_001335679.1:p.Glu1085Gln |