Linked Data
ClinVar Variation Id:
364601
dbSNP Id:
rs56181115
ExAC:
9:113449502 T / C
gnomAD v2:
9-113449502-T-C
gnomAD v3:
9-110687222-T-C
gnomAD v4:
9-110687222-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.110687222T>C , CM000671.2:g.110687222T>C | GRCh38 |
| NC_000009.11:g.113449502T>C , CM000671.1:g.113449502T>C | GRCh37 |
| NC_000009.10:g.112489323T>C | NCBI36 |
| NG_016016.1:g.23452T>C | |
| NG_016016.2:g.23432T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374448.9:c.312T>C MANE Select | ENSP00000363571.4:p.Gly104= | |
| ENST00000189978.10:c.312T>C | ENSP00000189978.6:p.Gly104= | |
| ENST00000374439.1:c.6T>C | ENSP00000363562.2:p.Gly2= | |
| ENST00000374440.7:c.312T>C | ENSP00000363563.4:p.Gly104= | |
| ENST00000374448.8:c.312T>C | ENSP00000363571.4:p.Gly104= | |
| ENST00000416899.7:c.312T>C | ENSP00000393608.3:p.Gly104= | |
| NM_001166280.1:c.312T>C | NP_001159752.1:p.Gly104= | |
| NM_001166281.1:c.312T>C | NP_001159753.1:p.Gly104= | |
| NM_005592.3:c.312T>C | NP_005583.1:p.Gly104= | |
| XM_005251994.2:c.312T>C | XP_005252051.1:p.Gly104= | |
| XM_005251995.2:c.312T>C | XP_005252052.1:p.Gly104= | |
| XM_005251996.2:c.312T>C | XP_005252053.1:p.Gly104= | |
| XM_011518707.1:c.312T>C | XP_011517009.1:p.Gly104= | |
| XM_005251994.3:c.312T>C | XP_005252051.1:p.Gly104= | |
| XM_005251995.3:c.312T>C | XP_005252052.1:p.Gly104= | |
| XM_005251996.3:c.312T>C | XP_005252053.1:p.Gly104= | |
| XM_017014734.1:c.312T>C | XP_016870223.1:p.Gly104= | |
| NM_001166280.2:c.312T>C | NP_001159752.1:p.Gly104= | |
| NM_001166281.2:c.312T>C | NP_001159753.1:p.Gly104= | |
| NM_005592.4:c.312T>C MANE Select | NP_005583.1:p.Gly104= |