COSMIC:
COSM3749206 (not active)
COSM3749207 (not active)
COSM3749208 (not active)
Revel Score:
ENST00000339570
0.178
ENST00000415380
0.178
ENST00000261693 (MANE Select)
0.178
ENST00000376788
0.178
ENST00000546215
0.178
ENST00000545493
0.178
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.14336885 (MID)
Genomes Max Group AF
0.10866525 (AMR)
Exomes Max Group AF
0.13881462 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.124863717C>T , CM000674.2:g.124863717C>T | GRCh38 |
| NC_000012.11:g.125348263C>T , CM000674.1:g.125348263C>T | GRCh37 |
| NC_000012.10:g.123914216C>T | NCBI36 |
| NG_028199.1:g.5257G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261693.11:c.4G>A MANE Select | ENSP00000261693.6:p.Gly2Ser | |
| ENST00000539320.3:n.237G>A | ||
| ENST00000679605.1:c.4G>A | ENSP00000505370.1:p.Gly2Ser | |
| ENST00000680556.1:c.4G>A | ENSP00000505757.1:p.Gly2Ser | |
| ENST00000680596.1:c.4G>A | ENSP00000505605.1:p.Gly2Ser | |
| ENST00000680926.1:c.4G>A | ENSP00000505571.1:p.Gly2Ser | |
| ENST00000680982.1:c.4G>A | ENSP00000506281.1:p.Gly2Ser | |
| ENST00000681117.1:c.4G>A | ENSP00000506693.1:p.Gly2Ser | |
| ENST00000681686.1:c.4G>A | ENSP00000505406.1:p.Gly2Ser | |
| ENST00000261693.10:c.4G>A | ENSP00000261693.6:p.Gly2Ser | |
| ENST00000339570.9:c.4G>A | ENSP00000343795.4:p.Gly2Ser | |
| ENST00000415380.6:c.4G>A | ENSP00000414979.2:p.Gly2Ser | |
| ENST00000535005.5:n.441+3272G>A | ||
| ENST00000538291.5:n.147G>A | ||
| ENST00000539320.2:n.180G>A | ||
| ENST00000541661.5:n.167+18785G>A | ||
| ENST00000545493.1:c.4G>A | ENSP00000443454.1:p.Gly2Ser | |
| ENST00000546215.5:c.4G>A | ENSP00000442862.1:p.Gly2Ser | |
| NM_001082959.1:c.4G>A | NP_001076428.1:p.Gly2Ser | |
| NM_005505.4:c.4G>A | NP_005496.4:p.Gly2Ser | |
| NM_005505.5:c.4G>A MANE Select | NP_005496.4:p.Gly2Ser | |
| NM_001082959.2:c.4G>A | NP_001076428.1:p.Gly2Ser | |
| NM_001367981.1:c.4G>A | NP_001354910.1:p.Gly2Ser | |
| NM_001367983.1:c.4G>A | NP_001354912.1:p.Gly2Ser | |
| NM_001367984.1:c.4G>A | NP_001354913.1:p.Gly2Ser | |
| NM_001367985.1:c.4G>A | NP_001354914.1:p.Gly2Ser | |
| NM_001367986.1:c.4G>A | NP_001354915.1:p.Gly2Ser | |
| NM_001367987.1:c.4G>A | NP_001354916.1:p.Gly2Ser | |
| NM_001367988.1:c.4G>A | NP_001354917.1:p.Gly2Ser | |
| NM_001367989.1:c.4G>A | NP_001354918.1:p.Gly2Ser | |
| NR_160416.1:n.148G>A | ||
| NR_160417.1:n.148G>A | ||
| NR_160418.1:n.148G>A | ||
| NR_160419.1:n.148G>A | ||
| NR_160420.1:n.148G>A | ||
| NR_160421.1:n.148G>A | ||
| NR_160422.1:n.148G>A | ||
| NR_160423.1:n.148G>A | ||
| NR_160424.1:n.148G>A |