Linked Data
dbSNP Id:
rs1380498676
gnomAD v2:
11-9163592-T-C
gnomAD v3:
11-9142045-T-C
gnomAD v4:
11-9142045-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9142045T>C , CM000673.2:g.9142045T>C | GRCh38 |
| NC_000011.9:g.9163592T>C , CM000673.1:g.9163592T>C | GRCh37 |
| NC_000011.8:g.9120168T>C | NCBI36 |
| NG_053019.1:g.128291A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328194.8:c.3575A>G MANE Select | ENSP00000328524.3:p.His1192Arg | |
| ENST00000525784.6:n.1437A>G | ||
| ENST00000530780.2:c.*3401A>G | ENSP00000433925.1:n.*3401A>G | |
| ENST00000531747.2:n.3246A>G | ||
| ENST00000679446.1:n.3496A>G | ||
| ENST00000679458.1:n.4976A>G | ||
| ENST00000679460.1:n.4637A>G | ||
| ENST00000679568.1:c.3575A>G | ENSP00000505860.1:p.His1192Arg | |
| ENST00000679745.1:n.4080A>G | ||
| ENST00000679773.1:n.2736A>G | ||
| ENST00000679926.1:n.4877A>G | ||
| ENST00000679999.1:c.*632A>G | ENSP00000505198.1:n.*632A>G | |
| ENST00000680252.1:c.3242A>G | ||
| ENST00000680294.1:c.3368A>G | ENSP00000506113.1:p.His1123Arg | |
| ENST00000680358.1:n.2874A>G | ||
| ENST00000680470.1:c.*1356A>G | ENSP00000505975.1:n.*1356A>G | |
| ENST00000680554.1:c.*108A>G | ENSP00000505621.1:n.*108A>G | |
| ENST00000680576.1:n.5051A>G | ||
| ENST00000680599.1:n.3616A>G | ||
| ENST00000680742.1:c.*108A>G | ENSP00000505206.1:n.*108A>G | |
| ENST00000680791.1:n.2459A>G | ||
| ENST00000680885.1:n.5277A>G | ||
| ENST00000681158.1:c.3159A>G | ||
| ENST00000681203.1:c.3503A>G | ENSP00000506456.1:p.His1168Arg | |
| ENST00000681371.1:n.3447A>G | ||
| ENST00000681425.1:n.4053A>G | ||
| ENST00000681639.1:n.1854A>G | ||
| ENST00000328194.7:c.3575A>G | ENSP00000328524.3:p.His1192Arg | |
| ENST00000525784.5:c.511A>G | ||
| ENST00000527700.5:n.3137A>G | ||
| ENST00000528725.5:c.271A>G | ||
| ENST00000529977.5:n.1476A>G | ||
| ENST00000530044.5:c.3575A>G | ENSP00000435866.1:p.His1192Arg | |
| ENST00000531747.1:c.811A>G | ||
| ENST00000533737.5:c.238A>G | ||
| NM_001243254.1:c.3575A>G | NP_001230183.1:p.His1192Arg | |
| NM_015213.3:c.3575A>G | NP_056028.2:p.His1192Arg | |
| XM_005252832.1:c.3575A>G | XP_005252889.1:p.His1192Arg | |
| XM_011519952.1:c.3575A>G | XP_011518254.1:p.His1192Arg | |
| XM_011519953.1:c.1673A>G | XP_011518255.1:p.His558Arg | |
| XR_242782.2:n.3757A>G | ||
| XR_930851.1:n.3757A>G | ||
| NM_001348749.1:c.3503A>G | NP_001335678.1:p.His1168Arg | |
| NM_001348750.1:c.3287A>G | NP_001335679.1:p.His1096Arg | |
| NR_145966.2:n.3749A>G | ||
| NM_015213.4:c.3575A>G MANE Select | NP_056028.2:p.His1192Arg | |
| NM_001243254.2:c.3575A>G | NP_001230183.1:p.His1192Arg | |
| NM_001348749.2:c.3503A>G | NP_001335678.1:p.His1168Arg | |
| NM_001348750.2:c.3287A>G | NP_001335679.1:p.His1096Arg |