Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154997061A>G , CM000685.2:g.154997061A>G | GRCh38 |
| NC_000023.10:g.154225336A>G , CM000685.1:g.154225336A>G | GRCh37 |
| NC_000023.9:g.153878530A>G | NCBI36 |
| NG_011403.1:g.30663T>C | |
| NG_011403.2:g.30663T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.300T>C MANE Select | ENSP00000353393.4:p.Tyr100= | |
| ENST00000647125.1:c.*86T>C | ENSP00000496062.1:n.*86T>C | |
| ENST00000360256.8:c.300T>C | ENSP00000353393.4:p.Tyr100= | |
| ENST00000423959.5:c.195T>C | ENSP00000409446.1:p.Tyr65= | |
| ENST00000453950.1:c.282T>C | ENSP00000389153.1:p.Tyr94= | |
| NM_000132.3:c.300T>C | NP_000123.1:p.Tyr100= | |
| XM_011531126.1:c.195T>C | XP_011529428.1:p.Tyr65= | |
| NM_000132.4:c.300T>C MANE Select | NP_000123.1:p.Tyr100= |