Linked Data
ClinVar Variation Id:
50864
ClinVar RCV Id:
RCV000043604
dbSNP Id:
rs398124653
ExAC:
20:14307948 G / T
gnomAD v2:
20-14307948-G-T
gnomAD v3:
20-14327302-G-T
gnomAD v4:
20-14327302-G-T
PubMed:
PMID:23643382
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.14327302G>T , CM000682.2:g.14327302G>T | GRCh38 |
| NC_000020.10:g.14307948G>T , CM000682.1:g.14307948G>T | GRCh37 |
| NC_000020.9:g.14255948G>T | NCBI36 |
| NG_033913.1:g.15366C>A | |
| NG_054905.1:g.336803G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684519.1:c.272-166177G>T (MACROD2) MANE Select | ENSP00000507484.1:n.272-166177G>T | |
| ENST00000341420.5:c.205C>A (FLRT3) MANE Select | ENSP00000339912.4:p.Gln69Lys | |
| ENST00000642719.1:c.272-166177G>T (MACROD2) | ENSP00000496601.1:n.272-166177G>T | |
| ENST00000217246.8:c.272-166177G>T (MACROD2) | ENSP00000217246.4:n.272-166177G>T | |
| ENST00000341420.4:c.205C>A (FLRT3) | ENSP00000339912.4:p.Gln69Lys | |
| ENST00000378053.3:c.205C>A (FLRT3) | ENSP00000367292.3:p.Gln69Lys | |
| ENST00000477147.5:n.541-166177G>T (MACROD2) | ||
| ENST00000490428.5:n.263-166177G>T (MACROD2) | ||
| ENST00000494602.5:n.299-166177G>T (MACROD2) | ||
| NM_013281.3:c.205C>A (FLRT3) | NP_037413.1:p.Gln69Lys | |
| NM_080676.5:c.272-166177G>T (MACROD2) | NP_542407.2:n.272-166177G>T | |
| NM_198391.2:c.205C>A (FLRT3) | NP_938205.1:p.Gln69Lys | |
| XM_005260682.3:c.205C>A (FLRT3) | XP_005260739.1:p.Gln69Lys | |
| XM_011529204.1:c.205C>A (FLRT3) | XP_011527506.1:p.Gln69Lys | |
| XM_011529205.1:c.205C>A (FLRT3) | XP_011527507.1:p.Gln69Lys | |
| NM_001351661.1:c.272-166177G>T (MACROD2) | NP_001338590.1:n.272-166177G>T | |
| NM_001351663.1:c.272-166177G>T (MACROD2) | NP_001338592.1:n.272-166177G>T | |
| XM_005260682.4:c.205C>A (FLRT3) | XP_005260739.1:p.Gln69Lys | |
| XM_011529204.2:c.205C>A (FLRT3) | XP_011527506.1:p.Gln69Lys | |
| XM_011529205.2:c.205C>A (FLRT3) | XP_011527507.1:p.Gln69Lys | |
| NM_198391.3:c.205C>A (FLRT3) MANE Select | NP_938205.1:p.Gln69Lys | |
| NM_001351661.2:c.272-166177G>T (MACROD2) MANE Select | NP_001338590.1:n.272-166177G>T | |
| NM_001351663.2:c.272-166177G>T (MACROD2) | NP_001338592.1:n.272-166177G>T | |
| NM_080676.6:c.272-166177G>T (MACROD2) | NP_542407.2:n.272-166177G>T | |
| NM_013281.4:c.205C>A (FLRT3) | NP_037413.1:p.Gln69Lys |