Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189006410T>C , CM000664.2:g.189006410T>C | GRCh38 |
| NC_000002.11:g.189871136T>C , CM000664.1:g.189871136T>C | GRCh37 |
| NC_000002.10:g.189579381T>C | NCBI36 |
| NG_007404.1:g.37038T>C , LRG_3:g.37038T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.3060T>C | ENSP00000415346.2:p.Gly1020= | |
| ENST00000304636.9:c.3159T>C MANE Select | ENSP00000304408.4:p.Gly1053= | |
| ENST00000304636.7:c.3159T>C | ENSP00000304408.3:p.Gly1053= | |
| ENST00000317840.9:c.2528-1644T>C | ENSP00000315243.6:n.2528-1644T>C | |
| NM_000090.3:c.3159T>C , LRG_3t1:c.3159T>C | NP_000081.1:p.Gly1053= | |
| NM_000090.4:c.3159T>C MANE Select | NP_000081.2:p.Gly1053= |