Linked Data
ClinVar Variation Id:
378537
ClinVar RCV Id:
RCV002338990
dbSNP Id:
rs72546675
ExAC:
11:118012035 G / A
gnomAD v2:
11-118012035-G-A
gnomAD v3:
11-118141320-G-A
gnomAD v4:
11-118141320-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118141320G>A , CM000673.2:g.118141320G>A | GRCh38 |
| NC_000011.9:g.118012035G>A , CM000673.1:g.118012035G>A | GRCh37 |
| NC_000011.8:g.117517245G>A | NCBI36 |
| NG_011710.1:g.16596C>T , LRG_330:g.16596C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000324727.9:c.480C>T MANE Select | ENSP00000322460.4:p.Asn160= | |
| ENST00000324727.8:c.480C>T | ENSP00000322460.4:p.Asn160= | |
| ENST00000415030.6:n.623C>T | ||
| ENST00000423160.2:n.114C>T | ||
| ENST00000529878.1:c.78C>T | ENSP00000436343.1:p.Asn26= | |
| ENST00000531550.1:n.545C>T | ||
| ENST00000532138.1:n.736C>T | ||
| NM_001142348.1:c.78C>T | NP_001135820.1:p.Asn26= | |
| NM_001142349.1:c.150C>T | NP_001135821.1:p.Asn50= | |
| NM_174934.3:c.480C>T , LRG_330t1:c.480C>T | NP_777594.1:p.Asn160= | |
| NR_024527.1:n.505C>T | ||
| NM_001142348.2:c.78C>T | NP_001135820.1:p.Asn26= | |
| NM_001142349.2:c.150C>T | NP_001135821.1:p.Asn50= | |
| NR_024527.2:n.469C>T | ||
| NM_174934.4:c.480C>T MANE Select | NP_777594.1:p.Asn160= |