Linked Data
ClinVar Variation Id:
325045
ClinVar RCV Id:
RCV000318964
dbSNP Id:
rs111899313
gnomAD v2:
17-72913614-T-G
gnomAD v3:
17-74917520-T-G
gnomAD v4:
17-74917520-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74917520T>G , CM000679.2:g.74917520T>G | GRCh38 |
| NC_000017.10:g.72913614T>G , CM000679.1:g.72913614T>G | GRCh37 |
| NC_000017.9:g.70425209T>G | NCBI36 |
| NG_007882.1:g.10738A>C | |
| NG_007882.2:g.10744A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000614341.5:c.*553A>C MANE Select | ENSP00000480279.1:n.*553A>C | |
| ENST00000614341.4:c.*553A>C | ENSP00000480279.1:n.*553A>C | |
| NM_001282489.2:c.*553A>C | NP_001269418.1:n.*553A>C | |
| NM_173477.4:c.*553A>C | NP_775748.2:n.*553A>C | |
| XM_011524296.1:c.*553A>C | XP_011522598.1:n.*553A>C | |
| XM_011524296.2:c.*553A>C | XP_011522598.1:n.*553A>C | |
| NM_173477.5:c.*553A>C MANE Select | NP_775748.2:n.*553A>C | |
| NM_001282489.3:c.*553A>C | NP_001269418.1:n.*553A>C |