Linked Data
ClinVar Variation Id:
324987
ClinVar RCV Id:
RCV000271784
dbSNP Id:
rs375284481
ExAC:
17:7124860 G / A
gnomAD v2:
17-7124860-G-A
gnomAD v3:
17-7221541-G-A
gnomAD v4:
17-7221541-G-A
ERepo:
CA8337740/MONDO:0008723/021
PubMed:
PMID:16488171
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7221541G>A , CM000679.2:g.7221541G>A | GRCh38 |
| NC_000017.10:g.7124860G>A , CM000679.1:g.7124860G>A | GRCh37 |
| NC_000017.9:g.7065584G>A | NCBI36 |
| NG_007975.1:g.6708G>A | |
| NG_008391.2:g.3510C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.481G>A MANE Select | ENSP00000349297.5:p.Ala161Thr | |
| ENST00000322910.9:c.*436G>A | ENSP00000325395.5:n.*436G>A | |
| ENST00000350303.9:c.415G>A | ENSP00000344152.5:p.Ala139Thr | |
| ENST00000356839.9:c.481G>A | ENSP00000349297.5:p.Ala161Thr | |
| ENST00000543245.6:c.550G>A | ENSP00000438689.2:p.Ala184Thr | |
| ENST00000577191.5:n.558G>A | ||
| ENST00000577433.5:n.689G>A | ||
| ENST00000577857.5:n.297G>A | ||
| ENST00000579286.5:n.662G>A | ||
| ENST00000579886.2:c.319G>A | ENSP00000463246.1:p.Ala107Thr | |
| ENST00000580365.1:n.212G>A | ||
| ENST00000581378.5:c.199G>A | ||
| ENST00000581562.5:n.525-411G>A | ||
| ENST00000582166.1:n.462G>A | ||
| ENST00000583312.5:c.481G>A | ENSP00000467920.1:p.Ala161Thr | |
| ENST00000583760.1:n.263G>A | ||
| NM_000018.3:c.481G>A | NP_000009.1:p.Ala161Thr | |
| NM_001033859.2:c.415G>A | NP_001029031.1:p.Ala139Thr | |
| NM_001270447.1:c.550G>A | NP_001257376.1:p.Ala184Thr | |
| NM_001270448.1:c.253G>A | NP_001257377.1:p.Ala85Thr | |
| XM_006721516.2:c.481G>A | XP_006721579.2:p.Ala161Thr | |
| XM_011523829.1:c.481G>A | XP_011522131.1:p.Ala161Thr | |
| XM_011523830.1:c.481G>A | XP_011522132.1:p.Ala161Thr | |
| XR_934021.1:n.588G>A | ||
| XR_934022.1:n.588G>A | ||
| XR_934023.1:n.588G>A | ||
| XM_006721516.3:c.481G>A | XP_006721579.2:p.Ala161Thr | |
| XM_011523829.2:c.481G>A | XP_011522131.1:p.Ala161Thr | |
| XM_011523830.2:c.481G>A | XP_011522132.1:p.Ala161Thr | |
| XM_024450741.1:c.481G>A | XP_024306509.1:p.Ala161Thr | |
| XR_934021.2:n.540G>A | ||
| XR_934022.2:n.540G>A | ||
| XR_934023.2:n.540G>A | ||
| NM_000018.4:c.481G>A MANE Select | NP_000009.1:p.Ala161Thr | |
| NM_001033859.3:c.415G>A | NP_001029031.1:p.Ala139Thr | |
| NM_001270447.2:c.550G>A | NP_001257376.1:p.Ala184Thr | |
| NM_001270448.2:c.253G>A | NP_001257377.1:p.Ala85Thr |