Linked Data
ClinVar Variation Id:
471336
dbSNP Id:
rs759284746
ExAC:
17:48244749 G / A
gnomAD v2:
17-48244749-G-A
gnomAD v4:
17-50167388-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50167388G>A , CM000679.2:g.50167388G>A | GRCh38 |
| NC_000017.10:g.48244749G>A , CM000679.1:g.48244749G>A | GRCh37 |
| NC_000017.9:g.45599748G>A | NCBI36 |
| NG_008889.1:g.6384G>A , LRG_203:g.6384G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504073.2:c.58G>A | ENSP00000422030.2:p.Asp20Asn | |
| ENST00000511303.6:n.38-559G>A | ||
| ENST00000512526.2:c.58G>A | ENSP00000426606.2:p.Asp20Asn | |
| ENST00000682109.1:c.38-194G>A | ENSP00000508041.1:n.38-194G>A | |
| ENST00000683294.1:c.58G>A | ENSP00000508134.1:p.Asp20Asn | |
| ENST00000262018.8:c.58G>A MANE Select | ENSP00000262018.3:p.Asp20Asn | |
| ENST00000262018.7:c.58G>A | ENSP00000262018.3:p.Asp20Asn | |
| ENST00000344627.10:c.58G>A | ENSP00000345522.6:p.Asp20Asn | |
| ENST00000502555.5:c.58G>A | ENSP00000422817.1:p.Asp20Asn | |
| ENST00000511303.5:c.34-559G>A | ENSP00000426104.1:n.34-559G>A | |
| ENST00000513821.5:c.58G>A | ENSP00000426571.1:p.Asp20Asn | |
| ENST00000513942.5:n.104-559G>A | ||
| ENST00000514934.1:c.117G>A | ENSP00000423168.1:p.Gly39= | |
| NM_000023.2:c.58G>A , LRG_203t1:c.58G>A | NP_000014.1:p.Asp20Asn | |
| NM_001135697.1:c.58G>A | NP_001129169.1:p.Asp20Asn | |
| XM_011525120.1:c.58G>A | XP_011523422.1:p.Asp20Asn | |
| XM_011525121.1:c.58G>A | XP_011523423.1:p.Asp20Asn | |
| XM_011525122.1:c.58G>A | XP_011523424.1:p.Asp20Asn | |
| XM_011525123.1:c.58G>A | XP_011523425.1:p.Asp20Asn | |
| XM_011525124.1:c.-94G>A | XP_011523426.1:n.-94G>A | |
| XR_934517.1:n.124G>A | ||
| NM_000023.3:c.58G>A | NP_000014.1:p.Asp20Asn | |
| NM_001135697.2:c.58G>A | NP_001129169.1:p.Asp20Asn | |
| NR_135553.1:n.114G>A | ||
| XM_011525120.2:c.220G>A | XP_011523422.2:p.Asp74Asn | |
| XM_011525121.2:c.220G>A | XP_011523423.2:p.Asp74Asn | |
| XM_011525122.2:c.220G>A | XP_011523424.2:p.Asp74Asn | |
| XM_011525123.2:c.220G>A | XP_011523425.2:p.Asp74Asn | |
| XM_011525124.2:c.-94G>A | XP_011523426.1:n.-94G>A | |
| XM_024450873.1:c.-94G>A | XP_024306641.1:n.-94G>A | |
| XR_002958056.1:n.576G>A | ||
| NM_000023.4:c.58G>A MANE Select | NP_000014.1:p.Asp20Asn | |
| NM_001135697.3:c.58G>A | NP_001129169.1:p.Asp20Asn | |
| NR_135553.2:n.94G>A |