Revel Score:
ENST00000261292 (MANE Select)
0.300
ENST00000427224
0.300
gnomAD v2:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.49567494C>A , CM000680.2:g.49567494C>A | GRCh38 |
| NC_000018.9:g.47093864C>A , CM000680.1:g.47093864C>A | GRCh37 |
| NC_000018.8:g.45347862C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261292.9:c.332C>A MANE Select | ENSP00000261292.4:p.Thr111Lys | |
| ENST00000261292.8:c.332C>A | ENSP00000261292.4:p.Thr111Lys | |
| ENST00000427224.6:c.332C>A | ENSP00000387978.2:p.Thr111Lys | |
| ENST00000577628.5:c.440C>A | ENSP00000463835.1:p.Thr147Lys | |
| ENST00000579750.1:c.296C>A | ENSP00000462480.1:p.Thr99Lys | |
| ENST00000580036.5:c.332C>A | ENSP00000462420.1:p.Thr111Lys | |
| NM_001308006.1:c.332C>A | NP_001294935.1:p.Thr111Lys | |
| NM_006033.2:c.332C>A | NP_006024.1:p.Thr111Lys | |
| NM_006033.3:c.332C>A | NP_006024.1:p.Thr111Lys | |
| XM_005258390.1:c.440C>A | XP_005258447.1:p.Thr147Lys | |
| XM_011526265.1:c.440C>A | XP_011524567.1:p.Thr147Lys | |
| XM_011526267.1:c.92C>A | XP_011524569.1:p.Thr31Lys | |
| XM_011526265.3:c.440C>A | XP_011524567.1:p.Thr147Lys | |
| XM_017026095.1:c.-372C>A | XP_016881584.1:n.-372C>A | |
| NM_006033.4:c.332C>A MANE Select | NP_006024.1:p.Thr111Lys | |
| NM_001308006.2:c.332C>A | NP_001294935.1:p.Thr111Lys |