Linked Data
ClinVar Variation Id:
348422
dbSNP Id:
rs74665455
ExAC:
4:1902609 C / T
gnomAD v2:
4-1902609-C-T
gnomAD v3:
4-1900882-C-T
gnomAD v4:
4-1900882-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1900882C>T , CM000666.2:g.1900882C>T | GRCh38 |
| NC_000004.11:g.1902609C>T , CM000666.1:g.1902609C>T | GRCh37 |
| NC_000004.10:g.1872407C>T | NCBI36 |
| NG_009269.1:g.34487C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398261.6:c.228C>T | ENSP00000381311.1:p.Ala76= | |
| ENST00000508803.6:c.228C>T MANE Select | ENSP00000423972.1:p.Ala76= | |
| ENST00000512700.2:c.228C>T | ENSP00000427516.2:p.Ala76= | |
| ENST00000677559.1:c.228C>T | ENSP00000504406.1:p.Ala76= | |
| ENST00000678714.1:c.228C>T | ENSP00000504221.1:p.Ala76= | |
| ENST00000312087.10:c.228C>T | ENSP00000308780.6:p.Ala76= | |
| ENST00000353275.9:c.228C>T | ENSP00000329167.5:p.Ala76= | |
| ENST00000382891.9:c.228C>T | ENSP00000372347.5:p.Ala76= | |
| ENST00000382892.6:c.228C>T | ENSP00000372348.2:p.Ala76= | |
| ENST00000382895.7:c.228C>T | ENSP00000372351.3:p.Ala76= | |
| ENST00000398261.5:c.228C>T | ENSP00000381311.1:p.Ala76= | |
| ENST00000420906.6:c.228C>T | ENSP00000399251.2:p.Ala76= | |
| ENST00000436793.5:c.228C>T | ENSP00000416725.1:p.Ala76= | |
| ENST00000503128.5:c.228C>T | ENSP00000425761.1:p.Ala76= | |
| ENST00000508355.5:n.346C>T | ||
| ENST00000508803.5:c.228C>T | ENSP00000423972.1:p.Ala76= | |
| ENST00000509115.5:c.228C>T | ENSP00000422878.1:p.Ala76= | |
| ENST00000512700.1:c.228C>T | ENSP00000427516.1:p.Ala76= | |
| ENST00000514045.5:c.228C>T | ENSP00000421681.1:p.Ala76= | |
| ENST00000515806.1:c.228C>T | ENSP00000427434.1:p.Ala76= | |
| NM_001042424.2:c.228C>T | NP_001035889.1:p.Ala76= | |
| NM_007331.1:c.228C>T | NP_015627.1:p.Ala76= | |
| NM_133330.2:c.228C>T | NP_579877.1:p.Ala76= | |
| NM_133331.2:c.228C>T | NP_579878.1:p.Ala76= | |
| NM_133334.2:c.228C>T | NP_579889.1:p.Ala76= | |
| NM_133335.3:c.228C>T | NP_579890.1:p.Ala76= | |
| XM_005248001.3:c.228C>T | XP_005248058.1:p.Ala76= | |
| XM_005248002.1:c.228C>T | XP_005248059.1:p.Ala76= | |
| XM_005248005.1:c.228C>T | XP_005248062.1:p.Ala76= | |
| XM_006713914.2:c.228C>T | XP_006713977.1:p.Ala76= | |
| XM_011513557.1:c.228C>T | XP_011511859.1:p.Ala76= | |
| XM_011513558.1:c.228C>T | XP_011511860.1:p.Ala76= | |
| XM_005248001.4:c.228C>T | XP_005248058.1:p.Ala76= | |
| XM_005248002.3:c.228C>T | XP_005248059.1:p.Ala76= | |
| XM_005248005.3:c.228C>T | XP_005248062.1:p.Ala76= | |
| XM_006713914.3:c.228C>T | XP_006713977.1:p.Ala76= | |
| XM_011513557.2:c.228C>T | XP_011511859.1:p.Ala76= | |
| NM_001042424.3:c.228C>T MANE Select | NP_001035889.1:p.Ala76= | |
| NM_007331.2:c.228C>T | NP_015627.1:p.Ala76= | |
| NM_133330.3:c.228C>T | NP_579877.1:p.Ala76= | |
| NM_133331.3:c.228C>T | NP_579878.1:p.Ala76= | |
| NM_133335.4:c.228C>T | NP_579890.1:p.Ala76= |