Linked Data
ClinVar Variation Id:
203595
dbSNP Id:
rs545215807
ExAC:
17:7124932 G / A
gnomAD v2:
17-7124932-G-A
gnomAD v3:
17-7221613-G-A
gnomAD v4:
17-7221613-G-A
ERepo:
CA312291/MONDO:0008723/021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7221613G>A , CM000679.2:g.7221613G>A | GRCh38 |
| NC_000017.10:g.7124932G>A , CM000679.1:g.7124932G>A | GRCh37 |
| NC_000017.9:g.7065656G>A | NCBI36 |
| NG_007975.1:g.6780G>A | |
| NG_008391.2:g.3438C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356839.10:c.553G>A MANE Select | ENSP00000349297.5:p.Gly185Ser | |
| ENST00000322910.9:c.*508G>A | ENSP00000325395.5:n.*508G>A | |
| ENST00000350303.9:c.487G>A | ENSP00000344152.5:p.Gly163Ser | |
| ENST00000356839.9:c.553G>A | ENSP00000349297.5:p.Gly185Ser | |
| ENST00000543245.6:c.622G>A | ENSP00000438689.2:p.Gly208Ser | |
| ENST00000577191.5:n.630G>A | ||
| ENST00000577433.5:n.761G>A | ||
| ENST00000577857.5:n.369G>A | ||
| ENST00000579286.5:n.734G>A | ||
| ENST00000579886.2:c.391G>A | ENSP00000463246.1:p.Gly131Ser | |
| ENST00000580365.1:n.284G>A | ||
| ENST00000581378.5:c.271G>A | ||
| ENST00000581562.5:n.525-339G>A | ||
| ENST00000582166.1:n.534G>A | ||
| ENST00000583312.5:c.553G>A | ENSP00000467920.1:p.Gly185Ser | |
| ENST00000583760.1:n.335G>A | ||
| NM_000018.3:c.553G>A | NP_000009.1:p.Gly185Ser | |
| NM_001033859.2:c.487G>A | NP_001029031.1:p.Gly163Ser | |
| NM_001270447.1:c.622G>A | NP_001257376.1:p.Gly208Ser | |
| NM_001270448.1:c.325G>A | NP_001257377.1:p.Gly109Ser | |
| XM_006721516.2:c.553G>A | XP_006721579.2:p.Gly185Ser | |
| XM_011523829.1:c.553G>A | XP_011522131.1:p.Gly185Ser | |
| XM_011523830.1:c.553G>A | XP_011522132.1:p.Gly185Ser | |
| XR_934021.1:n.660G>A | ||
| XR_934022.1:n.660G>A | ||
| XR_934023.1:n.660G>A | ||
| XM_006721516.3:c.553G>A | XP_006721579.2:p.Gly185Ser | |
| XM_011523829.2:c.553G>A | XP_011522131.1:p.Gly185Ser | |
| XM_011523830.2:c.553G>A | XP_011522132.1:p.Gly185Ser | |
| XM_024450741.1:c.553G>A | XP_024306509.1:p.Gly185Ser | |
| XR_934021.2:n.612G>A | ||
| XR_934022.2:n.612G>A | ||
| XR_934023.2:n.612G>A | ||
| NM_000018.4:c.553G>A MANE Select | NP_000009.1:p.Gly185Ser | |
| NM_001033859.3:c.487G>A | NP_001029031.1:p.Gly163Ser | |
| NM_001270447.2:c.622G>A | NP_001257376.1:p.Gly208Ser | |
| NM_001270448.2:c.325G>A | NP_001257377.1:p.Gly109Ser |