Linked Data
gnomAD v4:
16-67942997-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67942997T>G , CM000678.2:g.67942997T>G | GRCh38 |
| NC_000016.9:g.67976900T>G , CM000678.1:g.67976900T>G | GRCh37 |
| NC_000016.8:g.66534401T>G | NCBI36 |
| NG_009778.1:g.6116A>C | |
| NG_033098.1:g.30698A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.312-21A>C MANE Select | ENSP00000264005.5:n.312-21A>C | |
| ENST00000264005.9:c.312-21A>C | ENSP00000264005.5:n.312-21A>C | |
| ENST00000570369.5:c.40-21A>C | ||
| ENST00000570980.1:c.96-21A>C | ENSP00000464651.1:n.96-21A>C | |
| ENST00000575277.1:n.90-21A>C | ||
| ENST00000575467.5:c.*7-21A>C | ENSP00000460653.1:n.*7-21A>C | |
| NM_000229.1:c.312-21A>C | NP_000220.1:n.312-21A>C | |
| NM_000229.2:c.312-21A>C MANE Select | NP_000220.1:n.312-21A>C |