Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.39225723C>G , CM000684.2:g.39225723C>G | GRCh38 |
| NC_000022.10:g.39621728C>G , CM000684.1:g.39621728C>G | GRCh37 |
| NC_000022.9:g.37951674C>G | NCBI36 |
| NG_012111.1:g.24230G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002608.4:c.726G>C MANE Select | NP_002599.1:p.Ter242Tyr |
| ENST00000331163.11:c.726G>C MANE Select | ENSP00000330382.6:p.Ter242Tyr |
| NM_002608.2:c.726G>C | NP_002599.1:p.Ter242Tyr |
| NM_002608.3:c.726G>C | NP_002599.1:p.Ter242Tyr |
| NM_033016.2:c.681G>C | NP_148937.1:p.Ter227Tyr |
| NM_033016.3:c.681G>C | NP_148937.1:p.Ter227Tyr |
| ENST00000331163.10:c.726G>C | ENSP00000330382.6:p.Ter242Tyr |
| ENST00000381551.8:c.681G>C | ENSP00000370963.4:p.Ter227Tyr |