Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30756824G>C , CM000678.2:g.30756824G>C | GRCh38 |
| NC_000016.9:g.30768145G>C , CM000678.1:g.30768145G>C | GRCh37 |
| NC_000016.8:g.30675646G>C | NCBI36 |
| NG_016616.1:g.13526G>C | |
| NG_016616.2:g.13526G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000294.3:c.948G>C MANE Select | NP_000285.1:p.Leu316= |
| ENST00000563588.6:c.948G>C MANE Select | ENSP00000455607.1:p.Leu316= |
| NM_000294.2:c.948G>C | NP_000285.1:p.Leu316= |
| NM_001172432.1:c.948G>C | NP_001165903.1:p.Leu316= |
| NM_001172432.2:c.948G>C | NP_001165903.1:p.Leu316= |
| ENST00000328273.11:c.960G>C | ENSP00000329968.7:p.Leu320= |
| ENST00000424889.7:c.948G>C | ENSP00000388571.3:p.Leu316= |
| ENST00000563588.5:c.948G>C | ENSP00000455607.1:p.Leu316= |
| ENST00000563913.5:n.1281G>C | |
| ENST00000564838.5:n.1077G>C |