ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Revel Score:
ENST00000260630
0.429
ENST00000407341
0.429
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38075387A>G , CM000664.2:g.38075387A>G | GRCh38 |
| NC_000002.11:g.38302530A>G , CM000664.1:g.38302530A>G | GRCh37 |
| NC_000002.10:g.38156034A>G | NCBI36 |
| NG_008386.2:g.5715T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490576.2:c.2T>C | ENSP00000478839.2:p.Met1Thr | |
| ENST00000610745.5:c.2T>C MANE Select | ENSP00000478561.1:p.Met1Thr | |
| ENST00000490576.1:c.2T>C | ENSP00000478839.1:p.Met1Thr | |
| ENST00000494864.1:c.-70-4077T>C | ENSP00000479876.1:n.-70-4077T>C | |
| ENST00000610745.4:c.2T>C | ENSP00000478561.1:p.Met1Thr | |
| ENST00000613082.1:n.375+393T>C | ||
| ENST00000614273.1:c.2T>C | ENSP00000483678.1:p.Met1Thr | |
| NM_000104.3:c.2T>C | NP_000095.2:p.Met1Thr | |
| XM_011533236.1:c.1A>G | XP_011531538.1:p.Met1Val | |
| NM_000104.4:c.2T>C MANE Select | NP_000095.2:p.Met1Thr |