Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.6024310G>A , CM000672.2:g.6024310G>A | GRCh38 |
| NC_000010.10:g.6066273G>A , CM000672.1:g.6066273G>A | GRCh37 |
| NC_000010.9:g.6106279G>A | NCBI36 |
| NG_007403.1:g.43000C>T , LRG_73:g.43000C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447847.2:c.301C>T | ENSP00000402024.2:p.Gln101Ter | |
| ENST00000697424.1:c.301C>T | ENSP00000513307.1:p.Gln101Ter | |
| ENST00000379959.8:c.301C>T MANE Select | ENSP00000369293.3:p.Gln101Ter | |
| ENST00000256876.10:c.301C>T | ENSP00000256876.6:p.Gln101Ter | |
| ENST00000379954.5:c.301C>T | ENSP00000369287.1:p.Gln101Ter | |
| ENST00000379959.7:c.301C>T | ENSP00000369293.3:p.Gln101Ter | |
| ENST00000447847.1:c.213C>T | ||
| NM_000417.2:c.301C>T , LRG_73t1:c.301C>T | NP_000408.1:p.Gln101Ter | |
| NM_001308242.1:c.301C>T | NP_001295171.1:p.Gln101Ter | |
| NM_001308243.1:c.301C>T | NP_001295172.1:p.Gln101Ter | |
| NM_000417.3:c.301C>T MANE Select | NP_000408.1:p.Gln101Ter | |
| NM_001308242.2:c.301C>T | NP_001295171.1:p.Gln101Ter | |
| NM_001308243.2:c.301C>T | NP_001295172.1:p.Gln101Ter |