Linked Data
gnomAD v4:
8-117807444-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117807444T>C , CM000670.2:g.117807444T>C | GRCh38 |
| NC_000008.10:g.118819683T>C , CM000670.1:g.118819683T>C | GRCh37 |
| NC_000008.9:g.118888864T>C | NCBI36 |
| NG_007455.2:g.309376A>G , LRG_493:g.309376A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684189.1:n.1190-67A>G | ||
| ENST00000378204.7:c.1723-67A>G MANE Select | ENSP00000367446.3:n.1723-67A>G | |
| ENST00000378204.6:c.1723-67A>G | ENSP00000367446.2:n.1723-67A>G | |
| ENST00000437196.1:c.*614-67A>G | ENSP00000407299.1:n.*614-67A>G | |
| NM_000127.2:c.1723-67A>G , LRG_493t1:c.1723-67A>G | NP_000118.2:n.1723-67A>G | |
| NM_000127.3:c.1723-67A>G MANE Select | NP_000118.2:n.1723-67A>G |