Revel Score:
ENST00000205557 (MANE Select)
0.840
ENST00000456970
0.840
ENST00000546056
0.840
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16188925A>G , CM000678.2:g.16188925A>G | GRCh38 |
| NC_000016.9:g.16282782A>G , CM000678.1:g.16282782A>G | GRCh37 |
| NC_000016.8:g.16190283A>G | NCBI36 |
| NG_007558.2:g.39547T>C | |
| NG_007558.3:g.39693T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.1685T>C | ENSP00000483331.2:p.Met562Thr | |
| ENST00000205557.12:c.1685T>C MANE Select | ENSP00000205557.7:p.Met562Thr | |
| ENST00000205557.11:c.1685T>C | ENSP00000205557.7:p.Met562Thr | |
| ENST00000456970.6:c.1685T>C | ENSP00000405002.2:p.Met562Thr | |
| ENST00000574094.5:n.1781T>C | ||
| ENST00000622290.4:c.1685T>C | ENSP00000483331.1:p.Met562Thr | |
| NM_001171.5:c.1685T>C | NP_001162.4:p.Met562Thr | |
| XM_011522479.1:c.1685T>C | XP_011520781.1:p.Met562Thr | |
| XM_011522480.1:c.1343T>C | XP_011520782.1:p.Met448Thr | |
| XM_011522481.1:c.1343T>C | XP_011520783.1:p.Met448Thr | |
| XM_011522482.1:c.1685T>C | XP_011520784.1:p.Met562Thr | |
| XR_932836.1:n.1920T>C | ||
| XR_932837.1:n.1921T>C | ||
| XR_932838.1:n.1921T>C | ||
| NM_001351800.1:c.1343T>C | NP_001338729.1:p.Met448Thr | |
| NR_147784.1:n.1722T>C | ||
| XM_011522479.2:c.1685T>C | XP_011520781.1:p.Met562Thr | |
| XM_011522481.3:c.1343T>C | XP_011520783.1:p.Met448Thr | |
| XM_011522482.3:c.1685T>C | XP_011520784.1:p.Met562Thr | |
| XM_017023212.1:c.1685T>C | XP_016878701.1:p.Met562Thr | |
| XM_017023214.1:c.1685T>C | XP_016878703.1:p.Met562Thr | |
| XM_024450261.1:c.1721T>C | XP_024306029.1:p.Met574Thr | |
| XR_932836.2:n.1866T>C | ||
| XR_932837.3:n.1866T>C | ||
| XR_932838.3:n.1866T>C | ||
| NM_001171.6:c.1685T>C MANE Select | NP_001162.5:p.Met562Thr |