Revel Score:
ENST00000371872
0.174
ENST00000439388 (MANE Select)
0.174
ENST00000422262
0.174
ENST00000427237
0.174
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133704962G>C , CM000671.2:g.133704962G>C | GRCh38 |
| NC_000009.11:g.136570084G>C , CM000671.1:g.136570084G>C | GRCh37 |
| NC_000009.10:g.135559905G>C | NCBI36 |
| NG_008987.1:g.39994C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439388.6:c.1540C>G MANE Select | ENSP00000403084.1:p.Arg514Gly | |
| ENST00000371872.8:c.1540C>G | ENSP00000360938.4:p.Arg514Gly | |
| ENST00000422262.6:c.700C>G | ENSP00000415537.3:p.Arg234Gly | |
| ENST00000427237.6:c.1540C>G | ENSP00000394210.2:p.Arg514Gly | |
| ENST00000439388.5:c.1540C>G | ENSP00000403084.1:p.Arg514Gly | |
| ENST00000616662.4:c.*113C>G | ENSP00000484683.1:n.*113C>G | |
| NM_001134707.1:c.1540C>G | NP_001128179.1:p.Arg514Gly | |
| NM_007101.3:c.1540C>G | NP_009032.2:p.Arg514Gly | |
| XM_006716990.2:c.1540C>G | XP_006717053.1:p.Arg514Gly | |
| XM_011518333.1:c.1540C>G | XP_011516635.1:p.Arg514Gly | |
| XR_929726.1:n.1707C>G | ||
| XR_929727.1:n.1707C>G | ||
| XR_929728.1:n.1707C>G | ||
| XM_017014367.1:c.1540C>G | XP_016869856.1:p.Arg514Gly | |
| XM_017014368.1:c.1540C>G | XP_016869857.1:p.Arg514Gly | |
| XR_001746213.1:n.1836C>G | ||
| XR_001746214.1:n.3019C>G | ||
| XR_001746215.1:n.1838C>G | ||
| XR_001746216.1:n.1836C>G | ||
| XR_001746217.1:n.1836C>G | ||
| XR_001746218.1:n.1836C>G | ||
| XR_002956762.1:n.1792C>G | ||
| XR_929726.2:n.1707C>G | ||
| NM_001134707.2:c.1540C>G MANE Select | NP_001128179.1:p.Arg514Gly | |
| NM_007101.4:c.1540C>G | NP_009032.2:p.Arg514Gly |