Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.2718166G>C , CM000671.2:g.2718166G>C | GRCh38 |
| NC_000009.11:g.2718166G>C , CM000671.1:g.2718166G>C | GRCh37 |
| NC_000009.10:g.2708166G>C | NCBI36 |
| NG_012181.1:g.5641G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_133497.4:c.427G>C MANE Select | NP_598004.1:p.Glu143Gln |
| ENST00000382082.4:c.427G>C MANE Select | ENSP00000371514.3:p.Glu143Gln |
| NM_133497.3:c.427G>C | NP_598004.1:p.Glu143Gln |
| ENST00000382082.3:c.427G>C | ENSP00000371514.3:p.Glu143Gln |
| XR_929202.1:n.928G>C | |
| XR_929203.1:n.928G>C |