Linked Data
gnomAD v4:
5-159320309-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159320309T>C , CM000667.2:g.159320309T>C | GRCh38 |
| NC_000005.9:g.158747317T>C , CM000667.1:g.158747317T>C | GRCh37 |
| NC_000005.8:g.158679895T>C | NCBI36 |
| NG_009618.1:g.15165A>G , LRG_71:g.15165A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696750.1:c.64A>G | ENSP00000512849.1:p.Ile22Val | |
| ENST00000696751.1:c.*189A>G | ENSP00000512850.1:n.*189A>G | |
| ENST00000231228.3:c.694A>G MANE Select | ENSP00000231228.2:p.Ile232Val | |
| ENST00000231228.2:c.694A>G | ENSP00000231228.2:p.Ile232Val | |
| NM_002187.2:c.694A>G , LRG_71t1:c.694A>G | NP_002178.2:p.Ile232Val | |
| NM_002187.3:c.694A>G MANE Select | NP_002178.2:p.Ile232Val |