Linked Data
ClinVar Variation Id:
221272
dbSNP Id:
rs370933531
ExAC:
6:84566957 T / G
gnomAD v2:
6-84566957-T-G
gnomAD v3:
6-83857238-T-G
gnomAD v4:
6-83857238-T-G
PubMed:
PMID:25343988
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.83857238T>G , CM000668.2:g.83857238T>G | GRCh38 |
| NC_000006.11:g.84566957T>G , CM000668.1:g.84566957T>G | GRCh37 |
| NC_000006.10:g.84623676T>G | NCBI36 |
| NG_046722.1:g.8973T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369689.6:c.240-4T>G MANE Select | ENSP00000358703.1:n.240-4T>G | |
| ENST00000369687.2:c.66-4T>G | ENSP00000358701.1:n.66-4T>G | |
| ENST00000369689.5:c.240-4T>G | ENSP00000358703.1:n.240-4T>G | |
| ENST00000635617.1:n.3649T>G | ||
| NM_001009994.2:c.240-4T>G | NP_001009994.1:n.240-4T>G | |
| NR_103525.1:n.297-4T>G | ||
| NR_103525.2:n.235-4T>G | ||
| NM_001009994.3:c.240-4T>G MANE Select | NP_001009994.1:n.240-4T>G | |
| NM_001400774.1:c.-28+3077T>G | NP_001387703.1:n.-28+3077T>G | |
| NM_001400899.1:c.303-4T>G | NP_001387828.1:n.303-4T>G | |
| NM_001400900.1:c.*3073T>G | NP_001387829.1:n.*3073T>G | |
| NR_174603.1:n.234+3077T>G | ||
| NR_174604.1:n.296+3077T>G | ||
| NR_174605.1:n.455+3179T>G | ||
| NR_174622.1:n.3311T>G |