gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00093176 (AMR)
Genomes Max Group AF
0.00169055 (AMR)
Exomes Max Group AF
0.00055883 (AMR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43852368C>T , CM000664.2:g.43852368C>T | GRCh38 |
| NC_000002.11:g.44079507C>T , CM000664.1:g.44079507C>T | GRCh37 |
| NC_000002.10:g.43933011C>T | NCBI36 |
| NG_008884.1:g.18405C>T | |
| NG_008884.2:g.25427C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272286.4:c.576C>T MANE Select | ENSP00000272286.2:p.Ile192= | |
| ENST00000644611.1:c.588C>T | ENSP00000495423.1:p.Ile196= | |
| ENST00000272286.2:c.576C>T | ENSP00000272286.2:p.Ile192= | |
| NM_022437.2:c.576C>T | NP_071882.1:p.Ile192= | |
| XM_005264483.2:c.576C>T | XP_005264540.1:p.Ile192= | |
| XM_011533029.1:c.588C>T | XP_011531331.1:p.Ile196= | |
| XM_011533030.1:c.588C>T | XP_011531332.1:p.Ile196= | |
| XM_011533031.1:c.360C>T | XP_011531333.1:p.Ile120= | |
| XR_939707.1:n.1078C>T | ||
| NM_001357321.1:c.576C>T | NP_001344250.1:p.Ile192= | |
| XM_011533029.2:c.588C>T | XP_011531331.1:p.Ile196= | |
| XM_011533030.2:c.588C>T | XP_011531332.1:p.Ile196= | |
| XR_001738891.1:n.1092C>T | ||
| XR_939707.2:n.1092C>T | ||
| NM_022437.3:c.576C>T MANE Select | NP_071882.1:p.Ile192= | |
| NM_001357321.2:c.576C>T | NP_001344250.1:p.Ile192= |