Revel Score:
ENST00000409855
0.344
ENST00000259060
0.344
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.166423412C>G , CM000664.2:g.166423412C>G | GRCh38 |
| NC_000002.11:g.167279922C>G , CM000664.1:g.167279922C>G | GRCh37 |
| NC_000002.10:g.166988168C>G | NCBI36 |
| NG_031928.1:g.68560G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000441411.2:c.2874G>C | ENSP00000403846.2:p.Met958Ile | |
| ENST00000643258.1:c.2874G>C MANE Select | ENSP00000496114.1:p.Met958Ile | |
| ENST00000409855.5:c.2874G>C | ENSP00000386796.1:p.Met958Ile | |
| ENST00000424326.5:c.*679G>C | ENSP00000396600.1:n.*679G>C | |
| ENST00000619410.4:c.2874G>C | ENSP00000478562.1:p.Met958Ile | |
| ENST00000621965.4:c.2874G>C | ENSP00000481734.1:p.Met958Ile | |
| NM_002976.3:c.2874G>C | NP_002967.2:p.Met958Ile | |
| NR_045628.1:n.3098G>C | ||
| XM_006712680.1:c.2874G>C | XP_006712743.1:p.Met958Ile | |
| XM_006712681.2:c.2874G>C | XP_006712744.1:p.Met958Ile | |
| XM_006712682.2:c.2874G>C | XP_006712745.1:p.Met958Ile | |
| XM_011511615.1:c.2874G>C | XP_011509917.1:p.Met958Ile | |
| XM_006712680.2:c.2874G>C | XP_006712743.1:p.Met958Ile | |
| XM_006712681.3:c.2874G>C | XP_006712744.1:p.Met958Ile | |
| XM_006712682.3:c.2874G>C | XP_006712745.1:p.Met958Ile | |
| XM_011511615.2:c.2874G>C | XP_011509917.1:p.Met958Ile | |
| XM_017004667.1:c.2874G>C | XP_016860156.1:p.Met958Ile | |
| NM_002976.4:c.2874G>C MANE Select | NP_002967.2:p.Met958Ile |