COSMIC:
COSM6230650 (not active)
Revel Score:
ENST00000296754
0.097
ENST00000443439 (MANE Select)
0.097
ENST00000414384
0.097
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.2218311 (NFE)
Genomes Max Group AF
0.21651876 (NFE)
Exomes Max Group AF
0.22199877 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96786506C>T , CM000667.2:g.96786506C>T | GRCh38 |
| NC_000005.9:g.96122210C>T , CM000667.1:g.96122210C>T | GRCh37 |
| NC_000005.8:g.96147966C>T | NCBI36 |
| NG_027839.1:g.32639G>A | |
| NG_027839.2:g.154478G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000443439.7:c.1723G>A MANE Select | ENSP00000406304.2:p.Asp575Asn | |
| ENST00000296754.7:c.1723G>A | ENSP00000296754.3:p.Asp575Asn | |
| ENST00000443439.6:c.1723G>A | ENSP00000406304.2:p.Asp575Asn | |
| ENST00000507859.1:n.386G>A | ||
| ENST00000514604.5:n.147G>A | ||
| NM_001040458.1:c.1723G>A | NP_001035548.1:p.Asp575Asn | |
| NM_001198541.1:c.1723G>A | NP_001185470.1:p.Asp575Asn | |
| NM_016442.3:c.1723G>A | NP_057526.3:p.Asp575Asn | |
| XM_005272015.3:c.1723G>A | XP_005272072.1:p.Asp575Asn | |
| XM_005272016.3:c.1723G>A | XP_005272073.1:p.Asp575Asn | |
| XM_011543480.1:c.1723G>A | XP_011541782.1:p.Asp575Asn | |
| XM_011543481.1:c.1723G>A | XP_011541783.1:p.Asp575Asn | |
| XM_011543482.1:c.1723G>A | XP_011541784.1:p.Asp575Asn | |
| XM_011543483.1:c.1723G>A | XP_011541785.1:p.Asp575Asn | |
| XM_011543484.1:c.1723G>A | XP_011541786.1:p.Asp575Asn | |
| XM_011543485.1:c.1723G>A | XP_011541787.1:p.Asp575Asn | |
| XM_011543486.1:c.1723G>A | XP_011541788.1:p.Asp575Asn | |
| XM_011543487.1:c.1723G>A | XP_011541789.1:p.Asp575Asn | |
| NM_001040458.2:c.1723G>A | NP_001035548.1:p.Asp575Asn | |
| NM_001198541.2:c.1723G>A | NP_001185470.1:p.Asp575Asn | |
| NM_001349244.1:c.1723G>A | NP_001336173.1:p.Asp575Asn | |
| NM_016442.4:c.1723G>A | NP_057526.3:p.Asp575Asn | |
| XM_005272015.5:c.1723G>A | XP_005272072.1:p.Asp575Asn | |
| XM_005272016.4:c.1723G>A | XP_005272073.1:p.Asp575Asn | |
| XM_011543480.2:c.1723G>A | XP_011541782.1:p.Asp575Asn | |
| XM_011543481.2:c.1723G>A | XP_011541783.1:p.Asp575Asn | |
| XM_011543484.2:c.1723G>A | XP_011541786.1:p.Asp575Asn | |
| XM_011543485.2:c.1723G>A | XP_011541787.1:p.Asp575Asn | |
| XM_011543486.3:c.1723G>A | XP_011541788.1:p.Asp575Asn | |
| XM_017009581.1:c.1723G>A | XP_016865070.1:p.Asp575Asn | |
| XM_017009583.2:c.628G>A | XP_016865072.1:p.Asp210Asn | |
| XM_024446113.1:c.1723G>A | XP_024301881.1:p.Asp575Asn | |
| XR_001742119.2:n.1861G>A | ||
| NM_001040458.3:c.1723G>A MANE Select | NP_001035548.1:p.Asp575Asn | |
| NM_001198541.3:c.1723G>A | NP_001185470.1:p.Asp575Asn | |
| NM_001349244.2:c.1723G>A | NP_001336173.1:p.Asp575Asn | |
| NM_016442.5:c.1723G>A | NP_057526.3:p.Asp575Asn |