Linked Data
ClinVar Variation Id:
214841
ClinVar RCV Id:
RCV000197878
dbSNP Id:
rs780162910
ExAC:
11:67804038 A / T
gnomAD v2:
11-67804038-A-T
gnomAD v4:
11-68036571-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68036571A>T , CM000673.2:g.68036571A>T | GRCh38 |
| NC_000011.9:g.67804038A>T , CM000673.1:g.67804038A>T | GRCh37 |
| NC_000011.8:g.67560614A>T | NCBI36 |
| NG_007878.1:g.2556A>T , LRG_115:g.2556A>T | |
| NG_017040.1:g.10955A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313468.10:c.611A>T MANE Select | ENSP00000315774.5:p.Gln204Leu | |
| ENST00000313468.9:c.611A>T | ENSP00000315774.5:p.Gln204Leu | |
| ENST00000524810.5:c.543A>T | ||
| ENST00000528492.1:c.173A>T | ENSP00000432848.1:p.Gln58Leu | |
| ENST00000531282.1:n.463A>T | ||
| NM_002496.3:c.611A>T | NP_002487.1:p.Gln204Leu | |
| XM_005274013.1:c.611A>T | XP_005274070.1:p.Gln204Leu | |
| XM_005274014.1:c.611A>T | XP_005274071.1:p.Gln204Leu | |
| XM_005274015.1:c.491A>T | XP_005274072.1:p.Gln164Leu | |
| XM_011545053.1:c.611A>T | XP_011543355.1:p.Gln204Leu | |
| NM_002496.4:c.611A>T MANE Select | NP_002487.1:p.Gln204Leu |