ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00013088 (NFE)
Genomes Max Group AF
0.00006803 (NFE)
Exomes Max Group AF
0.00013161 (NFE)
Revel Score:
ENST00000366574 (MANE Select)
0.532
ENST00000360064
0.532
ENST00000542537
0.532
ENST00000542288
0.532
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.237783759T>A , CM000663.2:g.237783759T>A | GRCh38 |
| NC_000001.10:g.237947059T>A , CM000663.1:g.237947059T>A | GRCh37 |
| NC_000001.9:g.236013682T>A | NCBI36 |
| NG_008799.2:g.746358T>A | |
| NG_008799.3:g.746576T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609119.2:c.*3139T>A | ENSP00000499659.2:n.*3139T>A | |
| ENST00000659194.3:c.12035T>A | ENSP00000499653.3:p.Phe4012Tyr | |
| ENST00000660292.2:c.12068T>A | ENSP00000499787.2:p.Phe4023Tyr | |
| ENST00000659194.2:c.4224T>A | ||
| ENST00000366574.7:c.12047T>A MANE Select | ENSP00000355533.2:p.Phe4016Tyr | |
| ENST00000659194.1:c.4224T>A | ||
| ENST00000660292.1:c.2100T>A | ||
| ENST00000360064.7:c.11999T>A | ENSP00000353174.7:p.Phe4000Tyr | |
| ENST00000366574.6:c.12047T>A | ENSP00000355533.2:p.Phe4016Tyr | |
| ENST00000609119.1:n.3242T>A | ||
| NM_001035.2:c.12047T>A | NP_001026.2:p.Phe4016Tyr | |
| XM_006711802.2:c.12101T>A | XP_006711865.1:p.Phe4034Tyr | |
| XM_006711803.2:c.12098T>A | XP_006711866.1:p.Phe4033Tyr | |
| XM_006711804.2:c.12077T>A | XP_006711867.1:p.Phe4026Tyr | |
| XM_006711805.2:c.12071T>A | XP_006711868.1:p.Phe4024Tyr | |
| XM_006711806.2:c.12065T>A | XP_006711869.1:p.Phe4022Tyr | |
| XM_006711807.2:c.12041T>A | XP_006711870.1:p.Phe4014Tyr | |
| XM_006711808.2:c.11864T>A | XP_006711871.1:p.Phe3955Tyr | |
| XM_006711810.2:c.12008T>A | XP_006711873.1:p.Phe4003Tyr | |
| XM_006711802.3:c.12101T>A | XP_006711865.1:p.Phe4034Tyr | |
| XM_006711803.3:c.12098T>A | XP_006711866.1:p.Phe4033Tyr | |
| XM_006711804.3:c.12077T>A | XP_006711867.1:p.Phe4026Tyr | |
| XM_006711805.3:c.12071T>A | XP_006711868.1:p.Phe4024Tyr | |
| XM_006711806.3:c.12065T>A | XP_006711869.1:p.Phe4022Tyr | |
| XM_006711807.3:c.12041T>A | XP_006711870.1:p.Phe4014Tyr | |
| XM_006711808.3:c.11864T>A | XP_006711871.1:p.Phe3955Tyr | |
| XM_006711810.3:c.12008T>A | XP_006711873.1:p.Phe4003Tyr | |
| XM_017002028.1:c.12080T>A | XP_016857517.1:p.Phe4027Tyr | |
| NM_001035.3:c.12047T>A MANE Select | NP_001026.2:p.Phe4016Tyr |