Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50371729G>A , CM000685.2:g.50371729G>A | GRCh38 |
| NC_000023.10:g.50114728G>A , CM000685.1:g.50114728G>A | GRCh37 |
| NC_000023.9:g.50131468G>A | NCBI36 |
| NG_033143.2:g.103994C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001013742.4:c.3607C>T MANE Select | NP_001013764.1:p.Pro1203Ser |
| ENST00000611977.2:c.3607C>T MANE Select | ENSP00000477515.1:p.Pro1203Ser |
| NM_001013742.3:c.3607C>T | NP_001013764.1:p.Pro1203Ser |
| ENST00000611977.1:c.3607C>T | ENSP00000477515.1:p.Pro1203Ser |
| XM_017029268.2:c.3520C>T | XP_016884757.1:p.Pro1174Ser |