Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50221649G>A , CM000684.2:g.50221649G>A | GRCh38 |
| NC_000022.10:g.50660078G>A , CM000684.1:g.50660078G>A | GRCh37 |
| NC_000022.9:g.49002205G>A | NCBI36 |
| NG_032160.1:g.28323C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020461.4:c.2710C>T MANE Select | NP_065194.3:p.Pro904Ser |
| ENST00000248846.10:c.2710C>T MANE Select | ENSP00000248846.5:p.Pro904Ser |
| NM_020461.3:c.2710C>T | NP_065194.2:p.Pro904Ser |
| ENST00000248846.9:c.2710C>T | ENSP00000248846.5:p.Pro904Ser |
| ENST00000439308.6:c.2710C>T | ENSP00000397387.2:p.Pro904Ser |
| ENST00000491449.5:n.1017C>T | |
| ENST00000498611.5:n.3243C>T | |
| XR_001755343.2:n.3279C>T | |
| XR_001755344.2:n.3279C>T | |
| XR_002958720.1:n.3053+379C>T | |
| XR_938347.1:n.3275C>T | |
| XR_938347.2:n.3279C>T | |
| XR_938348.1:n.3049+379C>T |