Revel Score:
ENST00000413539
0.871
ENST00000409762
0.871
ENST00000409582
0.871
ENST00000429174
0.871
ENST00000258104 (MANE Plus Clinical)
0.871
ENST00000409651
0.871
ENST00000394120
0.871
ENST00000409744
0.871
ENST00000409366
0.871
ENST00000410020 (MANE Select)
0.871
ENST00000410041
0.871
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001327 (AMR)
Genomes Max Group AF
0.00002261 (AMR)
Exomes Max Group AF
3e-7 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71611344G>A , CM000664.2:g.71611344G>A | GRCh38 |
| NC_000002.11:g.71838474G>A , CM000664.1:g.71838474G>A | GRCh37 |
| NC_000002.10:g.71691982G>A | NCBI36 |
| NG_008694.1:g.162722G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698057.1:c.1471G>A | ENSP00000513536.1:p.Glu491Lys | |
| ENST00000698058.1:c.688G>A | ENSP00000513537.1:p.Glu230Lys | |
| ENST00000698059.1:c.646G>A | ENSP00000513538.1:p.Glu216Lys | |
| ENST00000258104.8:c.4003G>A MANE Plus Clinical | ENSP00000258104.3:p.Glu1335Lys | |
| ENST00000410020.8:c.4057G>A MANE Select | ENSP00000386881.3:p.Glu1353Lys | |
| ENST00000258104.7:c.4003G>A | ENSP00000258104.3:p.Glu1335Lys | |
| ENST00000394120.6:c.4006G>A | ENSP00000377678.2:p.Glu1336Lys | |
| ENST00000409366.5:c.4006G>A | ENSP00000386512.1:p.Glu1336Lys | |
| ENST00000409582.7:c.4054G>A | ENSP00000386547.3:p.Glu1352Lys | |
| ENST00000409651.5:c.4099G>A | ENSP00000386683.1:p.Glu1367Lys | |
| ENST00000409744.5:c.3964G>A | ENSP00000386285.1:p.Glu1322Lys | |
| ENST00000409762.5:c.4054G>A | ENSP00000387137.1:p.Glu1352Lys | |
| ENST00000410020.7:c.4057G>A | ENSP00000386881.3:p.Glu1353Lys | |
| ENST00000410041.1:c.4057G>A | ENSP00000386617.1:p.Glu1353Lys | |
| ENST00000413539.6:c.4096G>A | ENSP00000407046.2:p.Glu1366Lys | |
| ENST00000429174.6:c.4003G>A | ENSP00000398305.2:p.Glu1335Lys | |
| ENST00000468173.1:n.239G>A | ||
| ENST00000472873.5:n.387G>A | ||
| ENST00000479049.6:n.888G>A | ||
| ENST00000487180.5:n.222G>A | ||
| ENST00000494501.5:n.363G>A | ||
| NM_001130455.1:c.4006G>A | NP_001123927.1:p.Glu1336Lys | |
| NM_001130976.1:c.3961G>A | NP_001124448.1:p.Glu1321Lys | |
| NM_001130977.1:c.3961G>A | NP_001124449.1:p.Glu1321Lys | |
| NM_001130978.1:c.4003G>A | NP_001124450.1:p.Glu1335Lys | |
| NM_001130979.1:c.4096G>A | NP_001124451.1:p.Glu1366Lys | |
| NM_001130980.1:c.4054G>A | NP_001124452.1:p.Glu1352Lys | |
| NM_001130981.1:c.4054G>A | NP_001124453.1:p.Glu1352Lys | |
| NM_001130982.1:c.4099G>A | NP_001124454.1:p.Glu1367Lys | |
| NM_001130983.1:c.4006G>A | NP_001124455.1:p.Glu1336Lys | |
| NM_001130984.1:c.3964G>A | NP_001124456.1:p.Glu1322Lys | |
| NM_001130985.1:c.4057G>A | NP_001124457.1:p.Glu1353Lys | |
| NM_001130986.1:c.3964G>A | NP_001124458.1:p.Glu1322Lys | |
| NM_001130987.1:c.4057G>A | NP_001124459.1:p.Glu1353Lys | |
| NM_003494.3:c.4003G>A | NP_003485.1:p.Glu1335Lys | |
| XM_005264584.3:c.4099G>A | XP_005264641.1:p.Glu1367Lys | |
| XM_005264585.3:c.4096G>A | XP_005264642.1:p.Glu1366Lys | |
| XM_005264584.4:c.4099G>A | XP_005264641.1:p.Glu1367Lys | |
| XM_005264585.5:c.4096G>A | XP_005264642.1:p.Glu1366Lys | |
| XR_001738969.1:n.4257G>A | ||
| NM_001130987.2:c.4057G>A MANE Select | NP_001124459.1:p.Glu1353Lys | |
| NM_001130455.2:c.4006G>A | NP_001123927.1:p.Glu1336Lys | |
| NM_001130976.2:c.3961G>A | NP_001124448.1:p.Glu1321Lys | |
| NM_001130977.2:c.3961G>A | NP_001124449.1:p.Glu1321Lys | |
| NM_001130978.2:c.4003G>A | NP_001124450.1:p.Glu1335Lys | |
| NM_001130979.2:c.4096G>A | NP_001124451.1:p.Glu1366Lys | |
| NM_001130980.2:c.4054G>A | NP_001124452.1:p.Glu1352Lys | |
| NM_001130981.2:c.4054G>A | NP_001124453.1:p.Glu1352Lys | |
| NM_001130982.2:c.4099G>A | NP_001124454.1:p.Glu1367Lys | |
| NM_001130983.2:c.4006G>A | NP_001124455.1:p.Glu1336Lys | |
| NM_001130984.2:c.3964G>A | NP_001124456.1:p.Glu1322Lys | |
| NM_001130985.2:c.4057G>A | NP_001124457.1:p.Glu1353Lys | |
| NM_001130986.2:c.3964G>A | NP_001124458.1:p.Glu1322Lys | |
| NM_003494.4:c.4003G>A MANE Plus Clinical | NP_003485.1:p.Glu1335Lys |