Revel Score:
ENST00000334690 (MANE Select)
0.074
ENST00000357207
0.074
ENST00000360109
0.074
ENST00000512476
0.074
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01298559 (MID)
Genomes Max Group AF
0.00067723 (NFE)
Exomes Max Group AF
0.01269651 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.183693057C>G , CM000666.2:g.183693057C>G | GRCh38 |
| NC_000004.11:g.184614210C>G , CM000666.1:g.184614210C>G | GRCh37 |
| NC_000004.10:g.184851204C>G | NCBI36 |
| NG_033102.1:g.38791C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334690.11:c.2147C>G MANE Select | ENSP00000335371.6:p.Ala716Gly | |
| ENST00000334690.10:c.2147C>G | ENSP00000335371.6:p.Ala716Gly | |
| ENST00000357207.8:c.2147C>G | ENSP00000349738.4:p.Ala716Gly | |
| ENST00000505676.5:c.*261C>G | ENSP00000422915.1:n.*261C>G | |
| ENST00000512476.1:c.965C>G | ENSP00000421004.1:p.Ala322Gly | |
| NM_021942.5:c.2147C>G | NP_068761.4:p.Ala716Gly | |
| NM_199053.2:c.2147C>G | NP_951008.1:p.Ala716Gly | |
| XM_011532180.1:c.2147C>G | XP_011530482.1:p.Ala716Gly | |
| XM_017008537.2:c.2147C>G | XP_016864026.1:p.Ala716Gly | |
| XM_017008538.2:c.2147C>G | XP_016864027.1:p.Ala716Gly | |
| XM_024454179.1:c.2147C>G | XP_024309947.1:p.Ala716Gly | |
| XM_024454180.1:c.2147C>G | XP_024309948.1:p.Ala716Gly | |
| XM_024454181.1:c.797C>G | XP_024309949.1:p.Ala266Gly | |
| XR_001741315.2:n.2339C>G | ||
| NM_021942.6:c.2147C>G MANE Select | NP_068761.4:p.Ala716Gly | |
| NM_199053.3:c.2147C>G | NP_951008.1:p.Ala716Gly |