Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104034060A>C , CM000672.2:g.104034060A>C | GRCh38 |
| NC_000010.10:g.105793818A>C , CM000672.1:g.105793818A>C | GRCh37 |
| NC_000010.9:g.105783808A>C | NCBI36 |
| NG_007069.1:g.56821T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000494.4:c.4041T>G MANE Select | NP_000485.3:p.Tyr1347Ter |
| ENST00000648076.2:c.4041T>G MANE Select | ENSP00000497653.1:p.Tyr1347Ter |
| NM_000494.3:c.4041T>G | NP_000485.3:p.Tyr1347Ter |
| ENST00000353479.9:c.4041T>G | ENSP00000340937.5:p.Tyr1347Ter |
| ENST00000369733.7:c.3795T>G | ENSP00000358748.3:p.Tyr1265Ter |
| ENST00000369733.8:c.3795T>G | ENSP00000358748.3:p.Tyr1265Ter |
| ENST00000647647.1:c.71T>G |