gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.110747667T>C , CM000671.2:g.110747667T>C | GRCh38 |
| NC_000009.11:g.113509947T>C , CM000671.1:g.113509947T>C | GRCh37 |
| NC_000009.10:g.112549768T>C | NCBI36 |
| NG_016016.1:g.83897T>C | |
| NG_016016.2:g.83877T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374448.9:c.780T>C MANE Select | ENSP00000363571.4:p.Ser260= | |
| ENST00000189978.10:c.810T>C | ENSP00000189978.6:p.Ser270= | |
| ENST00000374440.7:c.810T>C | ENSP00000363563.4:p.Ser270= | |
| ENST00000374448.8:c.780T>C | ENSP00000363571.4:p.Ser260= | |
| ENST00000416899.7:c.780T>C | ENSP00000393608.3:p.Ser260= | |
| ENST00000634612.1:n.202T>C | ||
| NM_001166280.1:c.810T>C | NP_001159752.1:p.Ser270= | |
| NM_001166281.1:c.780T>C | NP_001159753.1:p.Ser260= | |
| NM_005592.3:c.780T>C | NP_005583.1:p.Ser260= | |
| XM_005251994.2:c.810T>C | XP_005252051.1:p.Ser270= | |
| XM_005251995.2:c.810T>C | XP_005252052.1:p.Ser270= | |
| XM_005251996.2:c.780T>C | XP_005252053.1:p.Ser260= | |
| XM_011518707.1:c.840T>C | XP_011517009.1:p.Ser280= | |
| XM_005251994.3:c.810T>C | XP_005252051.1:p.Ser270= | |
| XM_005251995.3:c.810T>C | XP_005252052.1:p.Ser270= | |
| XM_005251996.3:c.780T>C | XP_005252053.1:p.Ser260= | |
| XM_017014734.1:c.810T>C | XP_016870223.1:p.Ser270= | |
| NM_001166280.2:c.810T>C | NP_001159752.1:p.Ser270= | |
| NM_001166281.2:c.780T>C | NP_001159753.1:p.Ser260= | |
| NM_001369398.1:c.-457T>C | NP_001356327.1:n.-457T>C | |
| NM_005592.4:c.780T>C MANE Select | NP_005583.1:p.Ser260= |