dbSNP:
gnomAD v4:
Revel Score:
ENST00000310018 (MANE Select)
0.176
ENST00000393054
0.176
ENST00000353492
0.176
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.138771243A>C , CM000669.2:g.138771243A>C | GRCh38 |
| NC_000007.13:g.138455988A>C , CM000669.1:g.138455988A>C | GRCh37 |
| NC_000007.12:g.138106528A>C | NCBI36 |
| NG_008145.1:g.31954T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310018.7:c.5T>G MANE Select | ENSP00000308122.2:p.Val2Gly | |
| ENST00000645515.1:c.5T>G | ENSP00000496421.1:p.Val2Gly | |
| ENST00000310018.6:c.5T>G | ENSP00000308122.2:p.Val2Gly | |
| ENST00000353492.4:c.5T>G | ENSP00000253856.6:p.Val2Gly | |
| ENST00000393054.5:c.5T>G | ENSP00000376774.1:p.Val2Gly | |
| ENST00000483139.1:n.254T>G | ||
| NM_020632.2:c.5T>G | NP_065683.2:p.Val2Gly | |
| NM_130840.2:c.5T>G | NP_570855.2:p.Val2Gly | |
| NM_130841.2:c.5T>G | NP_570856.2:p.Val2Gly | |
| XM_005250393.1:c.5T>G | XP_005250450.1:p.Val2Gly | |
| XM_005250394.2:c.5T>G | XP_005250451.1:p.Val2Gly | |
| XM_005250394.3:c.5T>G | XP_005250451.1:p.Val2Gly | |
| NM_020632.3:c.5T>G MANE Select | NP_065683.2:p.Val2Gly | |
| NM_130840.3:c.5T>G | NP_570855.2:p.Val2Gly | |
| NM_130841.3:c.5T>G | NP_570856.2:p.Val2Gly |