Linked Data
gnomAD v4:
8-117837175-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117837175T>C , CM000670.2:g.117837175T>C | GRCh38 |
| NC_000008.10:g.118849414T>C , CM000670.1:g.118849414T>C | GRCh37 |
| NC_000008.9:g.118918595T>C | NCBI36 |
| NG_007455.2:g.279645A>G , LRG_493:g.279645A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684189.1:n.456A>G | ||
| ENST00000378204.7:c.989A>G MANE Select | ENSP00000367446.3:p.Asn330Ser | |
| ENST00000436216.2:c.357A>G | ||
| ENST00000378204.6:c.989A>G | ENSP00000367446.2:p.Asn330Ser | |
| ENST00000436216.1:c.357A>G | ||
| ENST00000437196.1:c.74-1624A>G | ENSP00000407299.1:n.74-1624A>G | |
| NM_000127.2:c.989A>G , LRG_493t1:c.989A>G | NP_000118.2:p.Asn330Ser | |
| NM_000127.3:c.989A>G MANE Select | NP_000118.2:p.Asn330Ser |