Revel Score:
ENST00000393462
0.752
ENST00000370215
0.752
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000542 (NFE)
Exomes Max Group AF
0.00000575 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.101023988C>A , CM000672.2:g.101023988C>A | GRCh38 |
| NC_000010.10:g.102783745C>A , CM000672.1:g.102783745C>A | GRCh37 |
| NC_000010.9:g.102773735C>A | NCBI36 |
| NG_028030.1:g.12170G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474125.7:c.307G>T | ENSP00000474447.1:p.Gly103Trp | |
| ENST00000619208.6:c.307G>T MANE Select | ENSP00000480489.1:p.Gly103Trp | |
| ENST00000644782.1:c.307G>T | ENSP00000496747.1:p.Gly103Trp | |
| ENST00000645349.1:c.307G>T | ENSP00000495283.1:p.Gly103Trp | |
| ENST00000370215.7:c.307G>T | ENSP00000359234.3:p.Gly103Trp | |
| ENST00000470414.1:c.307G>T | ENSP00000474831.1:p.Gly103Trp | |
| ENST00000474125.6:c.307G>T | ENSP00000474447.1:p.Gly103Trp | |
| ENST00000476306.1:n.218G>T | ||
| ENST00000619208.4:c.307G>T | ENSP00000480489.1:p.Gly103Trp | |
| NM_001195263.1:c.307G>T | NP_001182192.1:p.Gly103Trp | |
| NM_024895.4:c.307G>T | NP_079171.1:p.Gly103Trp | |
| XM_005270165.1:c.307G>T | XP_005270222.1:p.Gly103Trp | |
| XM_011540177.1:c.307G>T | XP_011538479.1:p.Gly103Trp | |
| XM_011540178.1:c.307G>T | XP_011538480.1:p.Gly103Trp | |
| XM_011540179.1:c.307G>T | XP_011538481.1:p.Gly103Trp | |
| XM_011540180.1:c.307G>T | XP_011538482.1:p.Gly103Trp | |
| XM_011540181.1:c.307G>T | XP_011538483.1:p.Gly103Trp | |
| XM_011540182.1:c.307G>T | XP_011538484.1:p.Gly103Trp | |
| XM_011540183.1:c.307G>T | XP_011538485.1:p.Gly103Trp | |
| XR_945815.1:n.555G>T | ||
| XR_945816.1:n.555G>T | ||
| NM_001351044.1:c.307G>T | NP_001337973.1:p.Gly103Trp | |
| XM_005270165.3:c.307G>T | XP_005270222.1:p.Gly103Trp | |
| XM_011540177.3:c.307G>T | XP_011538479.1:p.Gly103Trp | |
| XM_011540178.3:c.307G>T | XP_011538480.1:p.Gly103Trp | |
| XM_011540179.3:c.307G>T | XP_011538481.1:p.Gly103Trp | |
| XM_011540181.3:c.307G>T | XP_011538483.1:p.Gly103Trp | |
| XM_011540183.3:c.307G>T | XP_011538485.1:p.Gly103Trp | |
| XM_017016667.2:c.307G>T | XP_016872156.1:p.Gly103Trp | |
| XM_017016668.2:c.307G>T | XP_016872157.1:p.Gly103Trp | |
| XR_001747203.2:n.545G>T | ||
| XR_945816.3:n.545G>T | ||
| NM_001195263.2:c.307G>T MANE Select | NP_001182192.1:p.Gly103Trp | |
| NM_001351044.2:c.307G>T | NP_001337973.1:p.Gly103Trp | |
| NM_024895.5:c.307G>T | NP_079171.1:p.Gly103Trp |