Linked Data
ClinVar Variation Id:
1050999
ClinVar RCV Id:
RCV003365359
dbSNP Id:
rs746346966
ExAC:
16:23619187 G / A
gnomAD v2:
16-23619187-G-A
gnomAD v4:
16-23607866-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23607866G>A , CM000678.2:g.23607866G>A | GRCh38 |
| NC_000016.9:g.23619187G>A , CM000678.1:g.23619187G>A | GRCh37 |
| NC_000016.8:g.23526688G>A | NCBI36 |
| NG_007406.1:g.38492C>T , LRG_308:g.38492C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000561514.3:c.3354C>T | ENSP00000460666.3:p.Gly1118= | |
| ENST00000565038.2:c.*829C>T | ENSP00000459882.2:n.*829C>T | |
| ENST00000566069.6:c.3202-4197C>T | ENSP00000459237.2:n.3202-4197C>T | |
| ENST00000697377.2:c.3192C>T | ENSP00000513286.2:p.Gly1064= | |
| ENST00000697379.2:c.3354C>T | ENSP00000513287.2:p.Gly1118= | |
| ENST00000561514.2:c.2463C>T | ENSP00000460666.2:p.Gly821= | |
| ENST00000697374.1:c.2463C>T | ENSP00000513284.1:p.Gly821= | |
| ENST00000697375.1:n.4695C>T | ||
| ENST00000697376.1:c.2317-4197C>T | ENSP00000513285.1:n.2317-4197C>T | |
| ENST00000697377.1:c.2301C>T | ENSP00000513286.1:p.Gly767= | |
| ENST00000697378.1:n.3868C>T | ||
| ENST00000697379.1:c.2463C>T | ENSP00000513287.1:p.Gly821= | |
| ENST00000697380.1:n.2552C>T | ||
| ENST00000697381.1:n.2043C>T | ||
| ENST00000697382.1:c.*125C>T | ENSP00000513288.1:n.*125C>T | |
| ENST00000697383.1:c.882C>T | ENSP00000513289.1:p.Gly294= | |
| ENST00000261584.9:c.3348C>T MANE Select | ENSP00000261584.4:p.Gly1116= | |
| ENST00000261584.8:c.3348C>T | ENSP00000261584.4:p.Gly1116= | |
| ENST00000566069.5:c.117-4197C>T | ||
| ENST00000568219.5:c.2463C>T | ENSP00000454703.2:p.Gly821= | |
| NM_024675.3:c.3348C>T , LRG_308t1:c.3348C>T | NP_078951.2:p.Gly1116= | |
| XM_011545946.1:c.3354C>T | XP_011544248.1:p.Gly1118= | |
| XM_011545947.1:c.3208-4197C>T | XP_011544249.1:n.3208-4197C>T | |
| XM_011545948.1:c.2463C>T | XP_011544250.1:p.Gly821= | |
| XR_950851.1:n.4056C>T | ||
| XM_011545946.2:c.3354C>T | XP_011544248.1:p.Gly1118= | |
| XM_011545947.2:c.3208-4197C>T | XP_011544249.1:n.3208-4197C>T | |
| XM_011545948.2:c.2463C>T | XP_011544250.1:p.Gly821= | |
| XM_017023671.1:c.3120-4197C>T | XP_016879160.1:n.3120-4197C>T | |
| XM_017023672.2:c.3114-4197C>T | XP_016879161.1:n.3114-4197C>T | |
| XM_017023673.2:c.3202-4197C>T | XP_016879162.1:n.3202-4197C>T | |
| NM_024675.4:c.3348C>T MANE Select | NP_078951.2:p.Gly1116= |