ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v4:
Revel Score:
ENST00000467482 (MANE Select)
0.939
ENST00000380929
0.939
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.9765816A>G , CM000685.2:g.9765816A>G | GRCh38 |
| NC_000023.10:g.9733856A>G , CM000685.1:g.9733856A>G | GRCh37 |
| NC_000023.9:g.9693856A>G | NCBI36 |
| NG_009074.1:g.5062T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000467482.6:c.2T>C MANE Select | ENSP00000417161.1:p.Met1Thr | |
| ENST00000431126.1:c.-3+304T>C | ENSP00000406138.1:n.-3+304T>C | |
| ENST00000447366.5:c.-2-4990T>C | ENSP00000390546.2:n.-2-4990T>C | |
| ENST00000467482.5:c.2T>C | ENSP00000417161.1:p.Met1Thr | |
| NM_000273.2:c.2T>C | NP_000264.2:p.Met1Thr | |
| XM_005274541.2:c.2T>C | XP_005274598.1:p.Met1Thr | |
| XM_005274541.3:c.2T>C | XP_005274598.1:p.Met1Thr | |
| XM_024452387.1:c.-2-4990T>C | XP_024308155.1:n.-2-4990T>C | |
| XM_024452388.1:c.-2-4990T>C | XP_024308156.1:n.-2-4990T>C | |
| NM_000273.3:c.2T>C MANE Select | NP_000264.2:p.Met1Thr |