Linked Data
dbSNP Id:
rs1280482095
gnomAD v2:
11-68704228-A-C
gnomAD v3:
11-68936760-A-C
gnomAD v4:
11-68936760-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68936760A>C , CM000673.2:g.68936760A>C | GRCh38 |
| NC_000011.9:g.68704228A>C , CM000673.1:g.68704228A>C | GRCh37 |
| NC_000011.8:g.68460804A>C | NCBI36 |
| NG_007976.1:g.37910A>C , LRG_250:g.37910A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.2280A>C MANE Select | ENSP00000255078.4:p.Gln760His | |
| ENST00000674675.1:c.524A>C | ||
| ENST00000674878.1:c.524A>C | ||
| ENST00000674955.1:c.*997A>C | ENSP00000502463.1:n.*997A>C | |
| ENST00000675118.1:c.1768A>C | ||
| ENST00000675389.1:n.555A>C | ||
| ENST00000675615.1:c.2280A>C | ENSP00000502413.1:p.Gln760His | |
| ENST00000675648.1:n.1655A>C | ||
| ENST00000675916.1:c.524A>C | ||
| ENST00000676173.1:n.3025A>C | ||
| ENST00000676182.1:c.711A>C | ||
| ENST00000676228.1:c.*1603A>C | ENSP00000502375.1:n.*1603A>C | |
| ENST00000255078.7:c.2280A>C | ENSP00000255078.3:p.Gln760His | |
| ENST00000539064.5:n.2039A>C | ||
| ENST00000543739.5:n.1273A>C | ||
| NM_002180.2:c.2280A>C , LRG_250t1:c.2280A>C | NP_002171.2:p.Gln760His | |
| XM_005273974.2:c.1269A>C | XP_005274031.1:p.Gln423His | |
| XM_005273975.2:c.1152A>C | XP_005274032.1:p.Gln384His | |
| XM_011544994.1:c.1047A>C | XP_011543296.1:p.Gln349His | |
| XR_949903.1:n.2382A>C | ||
| XM_005273975.3:c.1152A>C | XP_005274032.1:p.Gln384His | |
| XM_017017669.2:c.1269A>C | XP_016873158.1:p.Gln423His | |
| XM_017017670.2:c.1269A>C | XP_016873159.1:p.Gln423His | |
| XR_949903.3:n.2378A>C | ||
| NM_002180.3:c.2280A>C MANE Select | NP_002171.2:p.Gln760His |