Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47574484A>G , CM000685.2:g.47574484A>G | GRCh38 |
| NC_000023.10:g.47433883A>G , CM000685.1:g.47433883A>G | GRCh37 |
| NC_000023.9:g.47318827A>G | NCBI36 |
| NG_008437.1:g.50374T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295987.13:c.1500T>C MANE Select | ENSP00000295987.7:p.Ala500= | |
| ENST00000340666.5:c.1500T>C | ENSP00000343206.4:p.Ala500= | |
| ENST00000640721.1:c.70+204T>C | ENSP00000492857.1:n.70+204T>C | |
| ENST00000295987.11:c.1500T>C | ENSP00000295987.7:p.Ala500= | |
| ENST00000340666.4:c.1500T>C | ENSP00000343206.4:p.Ala500= | |
| NM_006950.3:c.1500T>C MANE Select | NP_008881.2:p.Ala500= | |
| NM_133499.2:c.1500T>C | NP_598006.1:p.Ala500= |