ClinVar RCV:
ClinVar Variation:
dbSNP:
Revel Score:
ENST00000334909
0.824
ENST00000352480 (MANE Select)
0.824
ENST00000372394
0.824
ENST00000372393
0.824
ENST00000422569
0.824
ENST00000443588
0.824
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130452231G>A , CM000671.2:g.130452231G>A | GRCh38 |
| NC_000009.11:g.133327618G>A , CM000671.1:g.133327618G>A | GRCh37 |
| NC_000009.10:g.132317439G>A | NCBI36 |
| NG_011542.1:g.12525G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.3G>A MANE Select | ENSP00000253004.6:p.Met1Ile | |
| ENST00000352480.9:c.3G>A | ENSP00000253004.6:p.Met1Ile | |
| ENST00000372393.7:c.3G>A | ENSP00000361469.2:p.Met1Ile | |
| ENST00000372394.5:c.3G>A | ENSP00000361471.1:p.Met1Ile | |
| ENST00000422569.5:c.3G>A | ENSP00000394212.1:p.Met1Ile | |
| ENST00000443588.1:c.3G>A | ENSP00000397785.1:p.Met1Ile | |
| NM_000050.4:c.3G>A | NP_000041.2:p.Met1Ile | |
| NM_054012.3:c.3G>A | NP_446464.1:p.Met1Ile | |
| XM_005272200.2:c.3G>A | XP_005272257.1:p.Met1Ile | |
| XM_011518705.1:c.117G>A | XP_011517007.1:p.Met39Ile | |
| XM_005272200.3:c.3G>A | XP_005272257.1:p.Met1Ile | |
| XM_011518705.2:c.117G>A | XP_011517007.1:p.Met39Ile | |
| XM_017014729.1:c.99G>A | XP_016870218.1:p.Met33Ile | |
| NM_054012.4:c.3G>A MANE Select | NP_446464.1:p.Met1Ile |