Revel Score:
ENST00000295550 (MANE Select)
0.073
ENST00000347401
0.073
ENST00000353578
0.073
ENST00000472056
0.073
ENST00000409809
0.073
ENST00000346358
0.073
gnomAD v2:
gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237334821C>A , CM000664.2:g.237334821C>A | GRCh38 |
| NC_000002.11:g.238243464C>A , CM000664.1:g.238243464C>A | GRCh37 |
| NC_000002.10:g.237908203C>A | NCBI36 |
| NG_008676.1:g.84387G>T , LRG_473:g.84387G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.1611-1273G>T | ||
| ENST00000353578.9:c.8416G>T | ENSP00000315873.4:p.Ala2806Ser | |
| ENST00000682957.1:c.1161G>T | ||
| ENST00000295550.9:c.9034G>T MANE Select | ENSP00000295550.4:p.Ala3012Ser | |
| ENST00000295550.8:c.9034G>T | ENSP00000295550.4:p.Ala3012Ser | |
| ENST00000347401.7:c.7210G>T | ENSP00000315609.4:p.Ala2404Ser | |
| ENST00000353578.8:c.8416G>T | ENSP00000315873.4:p.Ala2806Ser | |
| ENST00000409809.5:c.8416G>T | ENSP00000386844.1:p.Ala2806Ser | |
| ENST00000472056.5:c.7213G>T | ENSP00000418285.1:p.Ala2405Ser | |
| ENST00000491769.1:n.5476G>T | ||
| NM_004369.3:c.9034G>T , LRG_473t1:c.9034G>T | NP_004360.2:p.Ala3012Ser | |
| NM_057166.4:c.7213G>T | NP_476507.3:p.Ala2405Ser | |
| NM_057167.3:c.8416G>T | NP_476508.2:p.Ala2806Ser | |
| XM_005246065.1:c.8434G>T | XP_005246122.1:p.Ala2812Ser | |
| XM_005246066.1:c.7813G>T | XP_005246123.1:p.Ala2605Ser | |
| XM_006712253.1:c.8533G>T | XP_006712316.1:p.Ala2845Ser | |
| XM_011510574.1:c.9031G>T | XP_011508876.1:p.Ala3011Ser | |
| XM_011510575.1:c.6628G>T | XP_011508877.1:p.Ala2210Ser | |
| XM_017003304.1:c.6628G>T | XP_016858793.1:p.Ala2210Ser | |
| XM_024452684.1:c.7813G>T | XP_024308452.1:p.Ala2605Ser | |
| NM_004369.4:c.9034G>T MANE Select | NP_004360.2:p.Ala3012Ser | |
| NM_057166.5:c.7213G>T | NP_476507.3:p.Ala2405Ser | |
| NM_057167.4:c.8416G>T | NP_476508.2:p.Ala2806Ser |