Revel Score:
ENST00000225964 (MANE Select)
0.451
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50198433C>G , CM000679.2:g.50198433C>G | GRCh38 |
| NC_000017.10:g.48275794C>G , CM000679.1:g.48275794C>G | GRCh37 |
| NC_000017.9:g.45630793C>G | NCBI36 |
| NG_007400.1:g.8207G>C , LRG_1:g.8207G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.543G>C MANE Select | ENSP00000225964.6:p.Met181Ile | |
| ENST00000225964.9:c.543G>C | ENSP00000225964.5:p.Met181Ile | |
| ENST00000495677.1:n.270G>C | ||
| NM_000088.3:c.543G>C , LRG_1t1:c.543G>C | NP_000079.2:p.Met181Ile | |
| XM_005257058.3:c.543G>C | XP_005257115.2:p.Met181Ile | |
| XM_005257059.3:c.543G>C | XP_005257116.2:p.Met181Ile | |
| XM_011524341.1:c.543G>C | XP_011522643.1:p.Met181Ile | |
| XM_005257058.4:c.543G>C | XP_005257115.2:p.Met181Ile | |
| XM_005257059.4:c.543G>C | XP_005257116.2:p.Met181Ile | |
| NM_000088.4:c.543G>C MANE Select | NP_000079.2:p.Met181Ile |