Linked Data
ClinVar Variation Id:
1152934
ClinVar RCV Id:
RCV001494467
dbSNP Id:
rs2142985210
gnomAD v4:
17-7223860-T-A
MyVariant Identifiers:
chr17:g.7127179T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7223860T>A , CM000679.2:g.7223860T>A | GRCh38 |
| NC_000017.10:g.7127179T>A , CM000679.1:g.7127179T>A | GRCh37 |
| NC_000017.9:g.7067903T>A | NCBI36 |
| NG_007975.1:g.9027T>A | |
| NG_008391.2:g.1191A>T | |
| NG_033038.1:g.15685A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1317T>A MANE Select | ENSP00000349297.5:p.Gly439= | |
| ENST00000322910.9:c.*1272T>A | ENSP00000325395.5:n.*1272T>A | |
| ENST00000350303.9:c.1251T>A | ENSP00000344152.5:p.Gly417= | |
| ENST00000356839.9:c.1317T>A | ENSP00000349297.5:p.Gly439= | |
| ENST00000542255.6:c.175T>A | ||
| ENST00000543245.6:c.1386T>A | ENSP00000438689.2:p.Gly462= | |
| ENST00000578711.1:n.356T>A | ||
| ENST00000579425.5:n.341T>A | ||
| ENST00000579546.1:c.154T>A | ||
| ENST00000583074.5:n.36T>A | ||
| ENST00000583850.5:n.92T>A | ||
| ENST00000583858.5:c.346T>A | ||
| ENST00000585203.6:n.523+2T>A | ||
| NM_000018.3:c.1317T>A | NP_000009.1:p.Gly439= | |
| NM_001033859.2:c.1251T>A | NP_001029031.1:p.Gly417= | |
| NM_001270447.1:c.1386T>A | NP_001257376.1:p.Gly462= | |
| NM_001270448.1:c.1089T>A | NP_001257377.1:p.Gly363= | |
| XM_006721516.2:c.1317T>A | XP_006721579.2:p.Gly439= | |
| XM_011523829.1:c.1317T>A | XP_011522131.1:p.Gly439= | |
| XM_011523830.1:c.1317T>A | XP_011522132.1:p.Gly439= | |
| XR_934021.1:n.1424T>A | ||
| XR_934022.1:n.1424T>A | ||
| XR_934023.1:n.1424T>A | ||
| XM_006721516.3:c.1317T>A | XP_006721579.2:p.Gly439= | |
| XM_011523829.2:c.1317T>A | XP_011522131.1:p.Gly439= | |
| XM_011523830.2:c.1317T>A | XP_011522132.1:p.Gly439= | |
| XM_024450741.1:c.1317T>A | XP_024306509.1:p.Gly439= | |
| XR_934021.2:n.1376T>A | ||
| XR_934022.2:n.1376T>A | ||
| XR_934023.2:n.1376T>A | ||
| NM_000018.4:c.1317T>A MANE Select | NP_000009.1:p.Gly439= | |
| NM_001033859.3:c.1251T>A | NP_001029031.1:p.Gly417= | |
| NM_001270447.2:c.1386T>A | NP_001257376.1:p.Gly462= | |
| NM_001270448.2:c.1089T>A | NP_001257377.1:p.Gly363= |