ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.103160971T>C , CM000673.2:g.103160971T>C | GRCh38 |
| NC_000011.9:g.103031700T>C , CM000673.1:g.103031700T>C | GRCh37 |
| NC_000011.8:g.102536910T>C | NCBI36 |
| NG_016423.1:g.56541T>C | |
| NG_016423.2:g.56541T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650373.2:c.4418T>C MANE Plus Clinical | ENSP00000497174.1:p.Ile1473Thr | |
| ENST00000375735.7:c.4418T>C MANE Select | ENSP00000364887.2:p.Ile1473Thr | |
| ENST00000649323.1:c.*1963T>C | ENSP00000497581.1:n.*1963T>C | |
| ENST00000650373.1:c.4418T>C | ENSP00000497174.1:p.Ile1473Thr | |
| ENST00000334267.11:c.2205+26552T>C | ENSP00000334021.7:n.2205+26552T>C | |
| ENST00000375735.6:c.4418T>C | ENSP00000364887.2:p.Ile1473Thr | |
| ENST00000398093.7:c.4418T>C | ENSP00000381167.3:p.Ile1473Thr | |
| NM_001080463.1:c.4418T>C | NP_001073932.1:p.Ile1473Thr | |
| NM_001377.2:c.4418T>C | NP_001368.2:p.Ile1473Thr | |
| XM_006718903.2:c.4418T>C | XP_006718966.1:p.Ile1473Thr | |
| XM_017018291.1:c.4418T>C | XP_016873780.1:p.Ile1473Thr | |
| XM_017018292.1:c.3800T>C | XP_016873781.1:p.Ile1267Thr | |
| XM_017018293.1:c.4418T>C | XP_016873782.1:p.Ile1473Thr | |
| NM_001377.3:c.4418T>C MANE Select | NP_001368.2:p.Ile1473Thr | |
| NM_001080463.2:c.4418T>C MANE Plus Clinical | NP_001073932.1:p.Ile1473Thr |