Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659369T>C , CM000685.2:g.136659369T>C | GRCh38 |
| NC_000023.10:g.135741528T>C , CM000685.1:g.135741528T>C | GRCh37 |
| NC_000023.9:g.135569194T>C | NCBI36 |
| NG_007280.1:g.16193T>C , LRG_141:g.16193T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.*358T>C | ENSP00000512122.1:n.*358T>C | |
| ENST00000695725.1:c.*295T>C | ENSP00000512123.1:n.*295T>C | |
| ENST00000695726.1:n.2708T>C | ||
| ENST00000695729.1:n.3543T>C | ||
| ENST00000370629.7:c.740T>C MANE Select | ENSP00000359663.2:p.Val247Ala | |
| ENST00000370628.2:c.677T>C | ENSP00000359662.2:p.Val226Ala | |
| ENST00000370629.6:c.740T>C | ENSP00000359663.2:p.Val247Ala | |
| NM_000074.2:c.740T>C , LRG_141t1:c.740T>C | NP_000065.1:p.Val247Ala | |
| NM_000074.3:c.740T>C MANE Select | NP_000065.1:p.Val247Ala |