Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154987303T>G , CM000685.2:g.154987303T>G | GRCh38 |
| NC_000023.10:g.154215578T>G , CM000685.1:g.154215578T>G | GRCh37 |
| NC_000023.9:g.153868772T>G | NCBI36 |
| NG_011403.1:g.40421A>C | |
| NG_011403.2:g.40421A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.604A>C MANE Select | NP_000123.1:p.Ser202Arg |
| ENST00000360256.9:c.604A>C MANE Select | ENSP00000353393.4:p.Ser202Arg |
| NM_000132.3:c.604A>C | NP_000123.1:p.Ser202Arg |
| ENST00000360256.8:c.604A>C | ENSP00000353393.4:p.Ser202Arg |
| ENST00000423959.5:c.499A>C | ENSP00000409446.1:p.Ser167Arg |
| ENST00000647125.1:c.*390A>C | ENSP00000496062.1:n.*390A>C |
| XM_011531126.1:c.499A>C | XP_011529428.1:p.Ser167Arg |