Linked Data
ClinVar Variation Id:
1696548
ClinVar RCV Id:
RCV002266678
dbSNP Id:
rs1240557088
gnomAD v3:
9-106972178-G-A
gnomAD v4:
9-106972178-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.106972178G>A , CM000671.2:g.106972178G>A | GRCh38 |
| NC_000009.11:g.109734459G>A , CM000671.1:g.109734459G>A | GRCh37 |
| NC_000009.10:g.108774280G>A | NCBI36 |
| NG_052913.1:g.114082G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000277225.10:c.6601G>A MANE Select | ENSP00000277225.5:p.Gly2201Ser | |
| ENST00000277225.9:c.6601G>A | ENSP00000277225.5:p.Gly2201Ser | |
| ENST00000374686.6:c.3430G>A | ENSP00000363818.2:p.Gly1144Ser | |
| ENST00000427098.1:c.305G>A | ||
| ENST00000441147.6:c.3319G>A | ENSP00000397306.2:p.Gly1107Ser | |
| ENST00000469433.5:n.491G>A | ||
| ENST00000479166.1:n.654G>A | ||
| ENST00000482115.1:n.37G>A | ||
| NM_021224.4:c.6601G>A | NP_067047.4:p.Gly2201Ser | |
| XM_006717209.2:c.6784G>A | XP_006717272.1:p.Gly2262Ser | |
| XM_006717210.2:c.6784G>A | XP_006717273.1:p.Gly2262Ser | |
| XM_006717211.2:c.6784G>A | XP_006717274.1:p.Gly2262Ser | |
| XM_006717212.2:c.6784G>A | XP_006717275.1:p.Gly2262Ser | |
| XM_006717215.2:c.6781G>A | XP_006717278.1:p.Gly2261Ser | |
| XM_006717216.2:c.6601G>A | XP_006717279.1:p.Gly2201Ser | |
| XM_006717218.2:c.4189G>A | XP_006717281.1:p.Gly1397Ser | |
| XM_011518892.1:c.6784G>A | XP_011517194.1:p.Gly2262Ser | |
| NM_001347997.1:c.4006G>A | NP_001334926.1:p.Gly1336Ser | |
| NM_021224.5:c.6601G>A | NP_067047.4:p.Gly2201Ser | |
| XM_006717209.4:c.6784G>A | XP_006717272.1:p.Gly2262Ser | |
| XM_006717211.4:c.6784G>A | XP_006717274.1:p.Gly2262Ser | |
| XM_006717212.4:c.6784G>A | XP_006717275.1:p.Gly2262Ser | |
| XM_006717215.4:c.6781G>A | XP_006717278.1:p.Gly2261Ser | |
| XM_006717216.4:c.6601G>A | XP_006717279.1:p.Gly2201Ser | |
| XM_006717218.4:c.4189G>A | XP_006717281.1:p.Gly1397Ser | |
| XM_017014996.2:c.6784G>A | XP_016870485.1:p.Gly2262Ser | |
| XM_017014997.2:c.6784G>A | XP_016870486.1:p.Gly2262Ser | |
| XM_017014998.2:c.4006G>A | XP_016870487.1:p.Gly1336Ser | |
| XM_024447629.1:c.6784G>A | XP_024303397.1:p.Gly2262Ser | |
| NM_021224.6:c.6601G>A MANE Select | NP_067047.4:p.Gly2201Ser | |
| NM_001347997.2:c.4006G>A | NP_001334926.1:p.Gly1336Ser |