Revel Score:
ENST00000264893 (MANE Select)
0.149
ENST00000502584
0.149
ENST00000510641
0.149
ENST00000505788
0.149
ENST00000510515
0.149
ENST00000541121
0.149
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.77019224G>C , CM000666.2:g.77019224G>C | GRCh38 |
| NC_000004.11:g.77940377G>C , CM000666.1:g.77940377G>C | GRCh37 |
| NC_000004.10:g.78159401G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264893.11:c.747G>C MANE Select | ENSP00000264893.6:p.Met249Ile | |
| ENST00000264893.10:c.747G>C | ENSP00000264893.6:p.Met249Ile | |
| ENST00000502584.5:c.747G>C | ENSP00000426344.1:p.Met249Ile | |
| ENST00000505788.5:c.747G>C | ENSP00000424925.1:p.Met249Ile | |
| ENST00000506047.1:n.207G>C | ||
| ENST00000510515.5:c.777G>C | ENSP00000422896.1:p.Met259Ile | |
| ENST00000510641.5:c.723G>C | ENSP00000420839.1:p.Met241Ile | |
| ENST00000512575.5:n.96-9405G>C | ||
| NM_001306147.1:c.777G>C | NP_001293076.1:p.Met259Ile | |
| NM_018243.2:c.747G>C | NP_060713.1:p.Met249Ile | |
| NM_018243.3:c.747G>C | NP_060713.1:p.Met249Ile | |
| XM_006714259.2:c.576G>C | XP_006714322.1:p.Met192Ile | |
| XM_011532107.1:c.777G>C | XP_011530409.1:p.Met259Ile | |
| XM_006714259.4:c.576G>C | XP_006714322.1:p.Met192Ile | |
| XM_017008400.2:c.777G>C | XP_016863889.1:p.Met259Ile | |
| XM_017008401.1:c.777G>C | XP_016863890.1:p.Met259Ile | |
| XM_017008402.1:c.777G>C | XP_016863891.1:p.Met259Ile | |
| XM_017008403.1:c.747G>C | XP_016863892.1:p.Met249Ile | |
| XM_017008404.1:c.747G>C | XP_016863893.1:p.Met249Ile | |
| XR_001741731.1:n.405+11949C>G | ||
| XR_001741732.1:n.405+11949C>G | ||
| XR_001741733.1:n.405+11949C>G | ||
| XR_938907.2:n.405+11949C>G | ||
| NM_001306147.2:c.777G>C | NP_001293076.1:p.Met259Ile | |
| NM_018243.4:c.747G>C MANE Select | NP_060713.1:p.Met249Ile |