Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.40846641G>A , CM000683.2:g.40846641G>A | GRCh38 |
| NC_000021.8:g.42218567G>A , CM000683.1:g.42218567G>A | GRCh37 |
| NC_000021.7:g.41140437G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001389.5:c.21C>T MANE Select | NP_001380.2:p.Ser7= |
| ENST00000400454.6:c.21C>T MANE Select | ENSP00000383303.1:p.Ser7= |
| NM_001271534.1:c.21C>T | NP_001258463.1:p.Ser7= |
| NM_001271534.2:c.21C>T | NP_001258463.1:p.Ser7= |
| NM_001271534.3:c.21C>T | NP_001258463.1:p.Ser7= |
| NM_001389.3:c.21C>T | NP_001380.2:p.Ser7= |
| NM_001389.4:c.21C>T | NP_001380.2:p.Ser7= |
| NR_073202.1:n.473C>T | |
| NR_073202.2:n.499C>T | |
| NR_073202.3:n.518C>T | |
| ENST00000400454.5:c.21C>T | ENSP00000383303.1:p.Ser7= |
| XM_011529480.1:c.21C>T | XP_011527782.1:p.Ser7= |