Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117835516C>G , CM000670.2:g.117835516C>G | GRCh38 |
| NC_000008.10:g.118847755C>G , CM000670.1:g.118847755C>G | GRCh37 |
| NC_000008.9:g.118916936C>G | NCBI36 |
| NG_007455.2:g.281304G>C , LRG_493:g.281304G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000127.3:c.1092G>C MANE Select | NP_000118.2:p.Trp364Cys |
| ENST00000378204.7:c.1092G>C MANE Select | ENSP00000367446.3:p.Trp364Cys |
| NM_000127.2:c.1092G>C , LRG_493t1:c.1092G>C | NP_000118.2:p.Trp364Cys |
| ENST00000378204.6:c.1092G>C | ENSP00000367446.2:p.Trp364Cys |
| ENST00000436216.1:c.460G>C | |
| ENST00000436216.2:c.460G>C | |
| ENST00000437196.1:c.109G>C | ENSP00000407299.1:p.Gly37Arg |
| ENST00000684189.1:n.559G>C |