Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39502948T>C , CM000681.2:g.39502948T>C | GRCh38 |
| NC_000019.9:g.39993588T>C , CM000681.1:g.39993588T>C | GRCh37 |
| NC_000019.8:g.44685428T>C | NCBI36 |
| NG_008256.1:g.9032T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356433.10:c.543T>C MANE Select | ENSP00000348810.4:p.Pro181= | |
| ENST00000205143.4:c.543T>C | ENSP00000205143.3:p.Pro181= | |
| ENST00000356433.9:c.543T>C | ENSP00000348810.4:p.Pro181= | |
| ENST00000596614.5:c.409+2276T>C | ENSP00000471688.1:n.409+2276T>C | |
| ENST00000600437.1:n.623T>C | ||
| NM_016941.3:c.543T>C | NP_058637.1:p.Pro181= | |
| NM_203486.2:c.543T>C | NP_982353.1:p.Pro181= | |
| NM_016941.4:c.543T>C | NP_058637.1:p.Pro181= | |
| NM_203486.3:c.543T>C MANE Select | NP_982353.1:p.Pro181= |