Linked Data
gnomAD v4:
6-38682930-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.38682930A>G , CM000668.2:g.38682930A>G | GRCh38 |
| NC_000006.11:g.38650706A>G , CM000668.1:g.38650706A>G | GRCh37 |
| NC_000006.10:g.38758684A>G | NCBI36 |
| NG_012074.1:g.25247T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373365.5:c.309-55T>C MANE Select | ENSP00000362463.3:n.309-55T>C | |
| ENST00000373365.4:c.309-55T>C | ENSP00000362463.3:n.309-55T>C | |
| ENST00000470973.1:n.286T>C | ||
| NM_006708.2:c.309-55T>C | NP_006699.2:n.309-55T>C | |
| NM_006708.3:c.309-55T>C MANE Select | NP_006699.2:n.309-55T>C |