Linked Data
dbSNP Id:
rs1390391157
gnomAD v2:
12-56348025-G-A
gnomAD v3:
12-55954241-G-A
gnomAD v4:
12-55954241-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.55954241G>A , CM000674.2:g.55954241G>A | GRCh38 |
| NC_000012.11:g.56348025G>A , CM000674.1:g.56348025G>A | GRCh37 |
| NC_000012.10:g.54634292G>A | NCBI36 |
| NG_028086.1:g.17472C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000548747.6:c.1959C>T MANE Select | ENSP00000448828.1:p.Ser653= | |
| ENST00000449260.6:c.1980C>T | ENSP00000402758.2:p.Ser660= | |
| ENST00000548493.5:c.1959C>T | ENSP00000447374.1:p.Ser653= | |
| ENST00000548747.5:c.1959C>T | ENSP00000448828.1:p.Ser653= | |
| ENST00000550447.5:c.846C>T | ENSP00000448029.1:p.Ser282= | |
| ENST00000550464.5:c.1701C>T | ENSP00000450036.1:p.Ser567= | |
| ENST00000552882.5:c.1959C>T | ENSP00000449690.1:p.Ser653= | |
| NM_001200053.1:c.1701C>T | NP_001186982.1:p.Ser567= | |
| NM_001200054.1:c.1980C>T | NP_001186983.1:p.Ser660= | |
| NM_006928.4:c.1959C>T | NP_008859.1:p.Ser653= | |
| XM_006719569.1:c.1959C>T | XP_006719632.1:p.Ser653= | |
| XM_011538685.1:c.1980C>T | XP_011536987.1:p.Ser660= | |
| XM_011538686.1:c.1854C>T | XP_011536988.1:p.Ser618= | |
| XM_011538687.1:c.1833C>T | XP_011536989.1:p.Ser611= | |
| NM_001320121.1:c.1854C>T | NP_001307050.1:p.Ser618= | |
| NM_001320122.1:c.1833C>T | NP_001307051.1:p.Ser611= | |
| NM_001384361.1:c.1959C>T MANE Select | NP_001371290.1:p.Ser653= | |
| NM_006928.5:c.1959C>T | NP_008859.1:p.Ser653= |