Linked Data
dbSNP Id:
rs1567560112
gnomAD v2:
17-7123500-C-G
gnomAD v4:
17-7220181-C-G
MyVariant Identifiers:
chr17:g.7123500C>G (hg19)
chr17:g.7123500_7123503delinsGCGG (hg19)
chr17:g.7220181C>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7220181C>G , CM000679.2:g.7220181C>G | GRCh38 |
| NC_000017.10:g.7123500C>G , CM000679.1:g.7123500C>G | GRCh37 |
| NC_000017.9:g.7064224C>G | NCBI36 |
| NG_007975.1:g.5348C>G | |
| NG_008391.2:g.4870G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.122C>G MANE Select | ENSP00000349297.5:p.Ala41Gly | |
| ENST00000322910.9:c.*77C>G | ENSP00000325395.5:n.*77C>G | |
| ENST00000350303.9:c.122C>G | ENSP00000344152.5:p.Ala41Gly | |
| ENST00000356839.9:c.122C>G | ENSP00000349297.5:p.Ala41Gly | |
| ENST00000543245.6:c.191C>G | ENSP00000438689.2:p.Ala64Gly | |
| ENST00000577191.5:n.199C>G | ||
| ENST00000577857.5:n.212C>G | ||
| ENST00000578269.5:n.229C>G | ||
| ENST00000578421.1:n.256C>G | ||
| ENST00000579286.5:n.229C>G | ||
| ENST00000579886.2:c.122C>G | ENSP00000463246.1:p.Ala41Gly | |
| ENST00000580263.5:n.212C>G | ||
| ENST00000581562.5:n.169C>G | ||
| ENST00000582056.5:n.212C>G | ||
| ENST00000582356.5:n.247C>G | ||
| ENST00000583312.5:c.122C>G | ENSP00000467920.1:p.Ala41Gly | |
| ENST00000584103.5:c.122C>G | ENSP00000465353.1:p.Ala41Gly | |
| NM_000018.3:c.122C>G | NP_000009.1:p.Ala41Gly | |
| NM_001033859.2:c.122C>G | NP_001029031.1:p.Ala41Gly | |
| NM_001270447.1:c.191C>G | NP_001257376.1:p.Ala64Gly | |
| NM_001270448.1:c.-107C>G | NP_001257377.1:n.-107C>G | |
| XM_006721516.2:c.122C>G | XP_006721579.2:p.Ala41Gly | |
| XM_011523829.1:c.122C>G | XP_011522131.1:p.Ala41Gly | |
| XM_011523830.1:c.122C>G | XP_011522132.1:p.Ala41Gly | |
| XR_934021.1:n.229C>G | ||
| XR_934022.1:n.229C>G | ||
| XR_934023.1:n.229C>G | ||
| XM_006721516.3:c.122C>G | XP_006721579.2:p.Ala41Gly | |
| XM_011523829.2:c.122C>G | XP_011522131.1:p.Ala41Gly | |
| XM_011523830.2:c.122C>G | XP_011522132.1:p.Ala41Gly | |
| XM_024450741.1:c.122C>G | XP_024306509.1:p.Ala41Gly | |
| XR_934021.2:n.181C>G | ||
| XR_934022.2:n.181C>G | ||
| XR_934023.2:n.181C>G | ||
| NM_000018.4:c.122C>G MANE Select | NP_000009.1:p.Ala41Gly | |
| NM_001033859.3:c.122C>G | NP_001029031.1:p.Ala41Gly | |
| NM_001270447.2:c.191C>G | NP_001257376.1:p.Ala64Gly | |
| NM_001270448.2:c.-107C>G | NP_001257377.1:n.-107C>G |