Linked Data
ClinVar Variation Id:
357651
ClinVar RCV Id:
RCV000311525
dbSNP Id:
rs774737661
gnomAD v2:
6-6144907-A-G
gnomAD v3:
6-6144674-A-G
gnomAD v4:
6-6144674-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6144674A>G , CM000668.2:g.6144674A>G | GRCh38 |
| NC_000006.11:g.6144907A>G , CM000668.1:g.6144907A>G | GRCh37 |
| NC_000006.10:g.6089906A>G | NCBI36 |
| NG_008107.1:g.181018T>C , LRG_549:g.181018T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264870.8:c.*945T>C MANE Select | ENSP00000264870.3:n.*945T>C | |
| ENST00000264870.7:c.*945T>C | ENSP00000264870.3:n.*945T>C | |
| NM_000129.3:c.*945T>C , LRG_549t1:c.*945T>C | NP_000120.2:n.*945T>C | |
| XM_006715010.2:c.*945T>C | XP_006715073.1:n.*945T>C | |
| XM_011514342.1:c.*945T>C | XP_011512644.1:n.*945T>C | |
| NM_000129.4:c.*945T>C MANE Select | NP_000120.2:n.*945T>C |