Linked Data
dbSNP Id:
rs11012
ExAC:
17:43513441 C / T
gnomAD v2:
17-43513441-C-T
gnomAD v3:
17-45436075-C-T
gnomAD v4:
17-45436075-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.45436075C>T , CM000679.2:g.45436075C>T | GRCh38 |
| NC_000017.10:g.43513441C>T , CM000679.1:g.43513441C>T | GRCh37 |
| NC_000017.9:g.40869224C>T | NCBI36 |
| NG_012932.1:g.59706G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000430334.8:c.*1783G>A MANE Select | ENSP00000389913.3:n.*1783G>A | |
| ENST00000430334.7:c.*1783G>A | ENSP00000389913.3:n.*1783G>A | |
| ENST00000579197.5:c.*4514G>A | ENSP00000462282.1:n.*4514G>A | |
| ENST00000580404.5:n.2456G>A | ||
| NM_014798.2:c.*1783G>A | NP_055613.1:n.*1783G>A | |
| NR_027774.1:n.4876G>A | ||
| NR_027782.1:n.4739G>A | ||
| XM_006722201.2:c.*1783G>A | XP_006722264.1:n.*1783G>A | |
| XM_006722202.2:c.*1783G>A | XP_006722265.1:n.*1783G>A | |
| XM_011525523.1:c.*35-1725G>A | XP_011523825.1:n.*35-1725G>A | |
| XM_011525524.1:c.*1783G>A | XP_011523826.1:n.*1783G>A | |
| XM_011525525.1:c.*1783G>A | XP_011523827.1:n.*1783G>A | |
| XM_011525526.1:c.*1783G>A | XP_011523828.1:n.*1783G>A | |
| XM_011525527.1:c.*1783G>A | XP_011523829.1:n.*1783G>A | |
| XM_011525528.1:c.*1783G>A | XP_011523830.1:n.*1783G>A | |
| XR_934624.1:n.5163G>A | ||
| XR_934625.1:n.4926G>A | ||
| XM_006722201.4:c.*1783G>A | XP_006722264.1:n.*1783G>A | |
| XM_011525523.2:c.*35-1725G>A | XP_011523825.1:n.*35-1725G>A | |
| XM_011525528.2:c.*1783G>A | XP_011523830.1:n.*1783G>A | |
| XM_017025451.1:c.*1783G>A | XP_016880940.1:n.*1783G>A | |
| XM_017025452.1:c.*1783G>A | XP_016880941.1:n.*1783G>A | |
| XM_017025453.1:c.*1783G>A | XP_016880942.1:n.*1783G>A | |
| XM_017025454.2:c.*1783G>A | XP_016880943.1:n.*1783G>A | |
| NM_014798.3:c.*1783G>A MANE Select | NP_055613.1:n.*1783G>A | |
| NR_027774.2:n.4817G>A | ||
| NR_027782.2:n.4680G>A |