Linked Data
dbSNP Id:
rs1562173905
gnomAD v2:
6-121767961-C-G
gnomAD v4:
6-121446815-C-G
MyVariant Identifiers:
chr6:g.121767961_121767969delinsGTCTTTGTT (hg19)
chr6:g.121446815_121446823delinsGTCTTTGTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.121446815C>G , CM000668.2:g.121446815C>G | GRCh38 |
| NC_000006.11:g.121767961C>G , CM000668.1:g.121767961C>G | GRCh37 |
| NC_000006.10:g.121809660C>G | NCBI36 |
| NG_008308.1:g.16217C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282561.4:c.-16-17C>G MANE Select | ENSP00000282561.3:n.-16-17C>G | |
| ENST00000647564.1:c.-16-17C>G | ENSP00000497565.1:n.-16-17C>G | |
| ENST00000649003.1:c.-16-17C>G | ENSP00000497283.1:n.-16-17C>G | |
| ENST00000650427.1:c.-16-17C>G | ENSP00000497367.1:n.-16-17C>G | |
| ENST00000282561.3:c.-16-17C>G | ENSP00000282561.3:n.-16-17C>G | |
| NM_000165.4:c.-16-17C>G | NP_000156.1:n.-16-17C>G | |
| NM_000165.5:c.-16-17C>G MANE Select | NP_000156.1:n.-16-17C>G |