Linked Data
dbSNP Id:
rs372495933
ExAC:
X:41089758 C / T
gnomAD v2:
X-41089758-C-T
gnomAD v3:
X-41230505-C-T
gnomAD v4:
X-41230505-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41230505C>T , CM000685.2:g.41230505C>T | GRCh38 |
| NC_000023.10:g.41089758C>T , CM000685.1:g.41089758C>T | GRCh37 |
| NC_000023.9:g.40974702C>T | NCBI36 |
| NG_012547.1:g.149871C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703986.1:c.7451C>T | ENSP00000515603.1:p.Pro2484Leu | |
| ENST00000703987.1:c.7499C>T | ENSP00000515604.1:p.Pro2500Leu | |
| ENST00000704649.1:c.3685-1882C>T | ENSP00000515974.1:n.3685-1882C>T | |
| ENST00000704650.1:c.7436C>T | ENSP00000515975.1:p.Pro2479Leu | |
| ENST00000704651.1:c.7283C>T | ENSP00000515976.1:p.Pro2428Leu | |
| ENST00000704652.1:c.6535C>T | ||
| ENST00000704654.1:c.4315C>T | ||
| ENST00000704655.1:c.3579C>T | ENSP00000515980.1:n.3579C>T | |
| ENST00000704656.1:c.2887C>T | ENSP00000515981.1:n.2887C>T | |
| ENST00000324545.9:c.7484C>T | ENSP00000316357.6:p.Pro2495Leu | |
| ENST00000378308.7:c.7436C>T MANE Select | ENSP00000367558.2:p.Pro2479Leu | |
| ENST00000324545.8:c.7484C>T | ENSP00000316357.6:p.Pro2495Leu | |
| ENST00000378308.6:c.7436C>T | ENSP00000367558.2:p.Pro2479Leu | |
| NM_001039590.2:c.7484C>T | NP_001034679.2:p.Pro2495Leu | |
| NM_001039591.2:c.7436C>T | NP_001034680.2:p.Pro2479Leu | |
| XM_005272675.3:c.7499C>T | XP_005272732.1:p.Pro2500Leu | |
| XM_005272676.3:c.7451C>T | XP_005272733.1:p.Pro2484Leu | |
| XM_005272675.4:c.7499C>T | XP_005272732.1:p.Pro2500Leu | |
| XM_005272676.4:c.7451C>T | XP_005272733.1:p.Pro2484Leu | |
| NM_001039591.3:c.7436C>T MANE Select | NP_001034680.2:p.Pro2479Leu | |
| NM_001039590.3:c.7484C>T | NP_001034679.2:p.Pro2495Leu |