ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75087589G>A , CM000668.2:g.75087589G>A | GRCh38 |
| NC_000006.11:g.75797305G>A , CM000668.1:g.75797305G>A | GRCh37 |
| NC_000006.10:g.75854025G>A | NCBI36 |
| NG_042181.1:g.123319C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322507.13:c.9169C>T MANE Select | ENSP00000325146.8:p.Gln3057Ter | |
| ENST00000680981.1:n.578C>T | ||
| ENST00000681086.1:n.952C>T | ||
| ENST00000322507.12:c.9169C>T | ENSP00000325146.8:p.Gln3057Ter | |
| ENST00000345356.10:c.5677C>T | ENSP00000305147.9:p.Gln1893Ter | |
| ENST00000416123.6:c.8941C>T | ENSP00000412864.2:p.Gln2981Ter | |
| ENST00000425443.6:c.2083C>T | ENSP00000399812.2:p.Gln695Ter | |
| ENST00000483888.6:c.9157C>T | ENSP00000421216.1:p.Gln3053Ter | |
| ENST00000615798.4:c.5602C>T | ENSP00000483232.1:p.Gln1868Ter | |
| NM_004370.5:c.9169C>T | NP_004361.3:p.Gln3057Ter | |
| NM_080645.2:c.5677C>T | NP_542376.2:p.Gln1893Ter | |
| XM_011535434.1:c.9169C>T | XP_011533736.1:p.Gln3057Ter | |
| XM_011535435.1:c.8896C>T | XP_011533737.1:p.Gln2966Ter | |
| XM_011535436.1:c.5677C>T | XP_011533738.1:p.Gln1893Ter | |
| XM_011535436.2:c.5677C>T | XP_011533738.1:p.Gln1893Ter | |
| XM_017010252.2:c.9133C>T | XP_016865741.1:p.Gln3045Ter | |
| NM_004370.6:c.9169C>T MANE Select | NP_004361.3:p.Gln3057Ter | |
| NM_080645.3:c.5677C>T | NP_542376.2:p.Gln1893Ter |