gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.55954295A>G , CM000674.2:g.55954295A>G | GRCh38 |
| NC_000012.11:g.56348079A>G , CM000674.1:g.56348079A>G | GRCh37 |
| NC_000012.10:g.54634346A>G | NCBI36 |
| NG_028086.1:g.17418T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000548747.6:c.1905T>C MANE Select | ENSP00000448828.1:p.Ser635= | |
| ENST00000449260.6:c.1926T>C | ENSP00000402758.2:p.Ser642= | |
| ENST00000548493.5:c.1905T>C | ENSP00000447374.1:p.Ser635= | |
| ENST00000548747.5:c.1905T>C | ENSP00000448828.1:p.Ser635= | |
| ENST00000549564.1:n.484T>C | ||
| ENST00000550447.5:c.792T>C | ENSP00000448029.1:p.Ser264= | |
| ENST00000550464.5:c.1647T>C | ENSP00000450036.1:p.Ser549= | |
| ENST00000552882.5:c.1905T>C | ENSP00000449690.1:p.Ser635= | |
| NM_001200053.1:c.1647T>C | NP_001186982.1:p.Ser549= | |
| NM_001200054.1:c.1926T>C | NP_001186983.1:p.Ser642= | |
| NM_006928.4:c.1905T>C | NP_008859.1:p.Ser635= | |
| XM_006719569.1:c.1905T>C | XP_006719632.1:p.Ser635= | |
| XM_011538685.1:c.1926T>C | XP_011536987.1:p.Ser642= | |
| XM_011538686.1:c.1800T>C | XP_011536988.1:p.Ser600= | |
| XM_011538687.1:c.1779T>C | XP_011536989.1:p.Ser593= | |
| NM_001320121.1:c.1800T>C | NP_001307050.1:p.Ser600= | |
| NM_001320122.1:c.1779T>C | NP_001307051.1:p.Ser593= | |
| NM_001384361.1:c.1905T>C MANE Select | NP_001371290.1:p.Ser635= | |
| NM_006928.5:c.1905T>C | NP_008859.1:p.Ser635= |