Linked Data
gnomAD v4:
16-67942869-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67942869T>C , CM000678.2:g.67942869T>C | GRCh38 |
| NC_000016.9:g.67976772T>C , CM000678.1:g.67976772T>C | GRCh37 |
| NC_000016.8:g.66534273T>C | NCBI36 |
| NG_009778.1:g.6244A>G | |
| NG_033098.1:g.30826A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264005.10:c.419A>G MANE Select | ENSP00000264005.5:p.Lys140Arg | |
| ENST00000264005.9:c.419A>G | ENSP00000264005.5:p.Lys140Arg | |
| ENST00000570369.5:c.147A>G | ||
| ENST00000570980.1:c.203A>G | ENSP00000464651.1:p.Lys68Arg | |
| ENST00000573538.5:c.62A>G | ENSP00000463220.1:p.Lys21Arg | |
| ENST00000573846.1:n.33A>G | ||
| ENST00000575277.1:n.197A>G | ||
| ENST00000575467.5:c.*114A>G | ENSP00000460653.1:n.*114A>G | |
| NM_000229.1:c.419A>G | NP_000220.1:p.Lys140Arg | |
| NM_000229.2:c.419A>G MANE Select | NP_000220.1:p.Lys140Arg |