Linked Data
gnomAD v4:
6-38682988-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.38682988T>G , CM000668.2:g.38682988T>G | GRCh38 |
| NC_000006.11:g.38650764T>G , CM000668.1:g.38650764T>G | GRCh37 |
| NC_000006.10:g.38758742T>G | NCBI36 |
| NG_012074.1:g.25189A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373365.5:c.309-113A>C MANE Select | ENSP00000362463.3:n.309-113A>C | |
| ENST00000373365.4:c.309-113A>C | ENSP00000362463.3:n.309-113A>C | |
| ENST00000470973.1:n.228A>C | ||
| NM_006708.2:c.309-113A>C | NP_006699.2:n.309-113A>C | |
| NM_006708.3:c.309-113A>C MANE Select | NP_006699.2:n.309-113A>C |