Linked Data
dbSNP Id:
rs919131789
gnomAD v2:
1-24194484-G-A
gnomAD v3:
1-23867994-G-A
gnomAD v4:
1-23867994-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23867994G>A , CM000663.2:g.23867994G>A | GRCh38 |
| NC_000001.10:g.24194484G>A , CM000663.1:g.24194484G>A | GRCh37 |
| NC_000001.9:g.24067071G>A | NCBI36 |
| NG_013346.1:g.5376C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374479.4:c.293C>T MANE Select | ENSP00000363603.3:p.Pro98Leu | |
| ENST00000374479.3:c.293C>T | ENSP00000363603.3:p.Pro98Leu | |
| NM_000147.4:c.293C>T | NP_000138.2:p.Pro98Leu | |
| XM_005245821.1:c.-257C>T | XP_005245878.1:n.-257C>T | |
| XM_005245821.3:c.-257C>T | XP_005245878.1:n.-257C>T | |
| NM_000147.5:c.293C>T MANE Select | NP_000138.2:p.Pro98Leu | |
| NR_174379.1:n.297C>T | ||
| NR_174380.1:n.297C>T | ||
| NR_174381.1:n.297C>T | ||
| NR_174382.1:n.297C>T |