Linked Data
dbSNP Id:
rs2087396160
gnomAD v4:
20-3669606-G-A
MyVariant Identifiers:
chr20:g.3650253G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3669606G>A , CM000682.2:g.3669606G>A | GRCh38 |
| NC_000020.10:g.3650253G>A , CM000682.1:g.3650253G>A | GRCh37 |
| NC_000020.9:g.3598253G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356518.7:c.2272C>T MANE Select | ENSP00000348912.3:p.Leu758= | |
| ENST00000350009.6:c.2194C>T | ENSP00000322550.5:p.Leu732= | |
| ENST00000356518.6:c.2272C>T | ENSP00000348912.2:p.Leu758= | |
| ENST00000379861.8:c.2272C>T | ENSP00000369190.4:p.Leu758= | |
| ENST00000466620.5:n.1833C>T | ||
| ENST00000483362.1:n.1020C>T | ||
| ENST00000617732.1:c.*959C>T | ENSP00000483343.1:n.*959C>T | |
| ENST00000619289.4:c.1912C>T | ENSP00000484600.1:p.Leu638= | |
| NM_001282447.1:c.2272C>T | NP_001269376.1:p.Leu758= | |
| NM_025220.3:c.2272C>T | NP_079496.1:p.Leu758= | |
| NM_153202.2:c.2194C>T | NP_694882.1:p.Leu732= | |
| XM_005260843.1:c.2311C>T | XP_005260900.1:p.Leu771= | |
| XM_006723639.1:c.2311C>T | XP_006723702.1:p.Leu771= | |
| XM_006723640.1:c.2302C>T | XP_006723703.1:p.Leu768= | |
| XM_011529366.1:c.2308C>T | XP_011527668.1:p.Leu770= | |
| XM_011529367.1:c.2269C>T | XP_011527669.1:p.Leu757= | |
| XM_011529368.1:c.2233C>T | XP_011527670.1:p.Leu745= | |
| XM_011529373.1:c.1309C>T | XP_011527675.1:p.Leu437= | |
| XR_937151.1:n.2384-236C>T | ||
| XR_937152.1:n.2384-236C>T | ||
| XR_937153.1:n.2296C>T | ||
| XR_937154.1:n.2296C>T | ||
| XR_937155.1:n.2217C>T | ||
| XR_937157.1:n.2219C>T | ||
| NM_001282447.2:c.2272C>T | NP_001269376.1:p.Leu758= | |
| NM_025220.4:c.2272C>T | NP_079496.1:p.Leu758= | |
| NM_153202.3:c.2194C>T | NP_694882.1:p.Leu732= | |
| XM_011529373.2:c.1309C>T | XP_011527675.1:p.Leu437= | |
| XR_001754405.1:n.2383C>T | ||
| XR_002958534.1:n.2492C>T | ||
| NM_001282447.3:c.2272C>T | NP_001269376.1:p.Leu758= | |
| NM_025220.5:c.2272C>T MANE Select | NP_079496.1:p.Leu758= | |
| NM_153202.4:c.2194C>T | NP_694882.1:p.Leu732= |