ClinVar Variation:
dbSNP:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.110800743G>A , CM000671.2:g.110800743G>A | GRCh38 |
| NC_000009.11:g.113563023G>A , CM000671.1:g.113563023G>A | GRCh37 |
| NC_000009.10:g.112602844G>A | NCBI36 |
| NG_016016.1:g.136973G>A | |
| NG_016016.2:g.136953G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374448.9:c.2365G>A MANE Select | ENSP00000363571.4:p.Gly789Ser | |
| ENST00000189978.10:c.2107G>A | ENSP00000189978.6:p.Gly703Ser | |
| ENST00000374440.7:c.2107G>A | ENSP00000363563.4:p.Gly703Ser | |
| ENST00000374448.8:c.2365G>A | ENSP00000363571.4:p.Gly789Ser | |
| ENST00000416899.7:c.2341G>A | ENSP00000393608.3:p.Gly781Ser | |
| NM_001166280.1:c.2107G>A | NP_001159752.1:p.Gly703Ser | |
| NM_001166281.1:c.2077G>A | NP_001159753.1:p.Gly693Ser | |
| NM_005592.3:c.2365G>A | NP_005583.1:p.Gly789Ser | |
| XM_005251994.2:c.2395G>A | XP_005252051.1:p.Gly799Ser | |
| XM_005251995.2:c.2371G>A | XP_005252052.1:p.Gly791Ser | |
| XM_005251996.2:c.2341G>A | XP_005252053.1:p.Gly781Ser | |
| XM_011518707.1:c.2425G>A | XP_011517009.1:p.Gly809Ser | |
| XM_011518708.1:c.1129G>A | XP_011517010.1:p.Gly377Ser | |
| XM_005251994.3:c.2395G>A | XP_005252051.1:p.Gly799Ser | |
| XM_005251995.3:c.2371G>A | XP_005252052.1:p.Gly791Ser | |
| XM_005251996.3:c.2341G>A | XP_005252053.1:p.Gly781Ser | |
| XM_011518708.2:c.1129G>A | XP_011517010.1:p.Gly377Ser | |
| XM_017014734.1:c.2131G>A | XP_016870223.1:p.Gly711Ser | |
| NM_001166280.2:c.2107G>A | NP_001159752.1:p.Gly703Ser | |
| NM_001166281.2:c.2077G>A | NP_001159753.1:p.Gly693Ser | |
| NM_001369398.1:c.1105G>A | NP_001356327.1:p.Gly369Ser | |
| NM_005592.4:c.2365G>A MANE Select | NP_005583.1:p.Gly789Ser |