Linked Data
ClinVar Variation Id:
1701032
dbSNP Id:
rs587783157
ExAC:
X:18646678 C / T
gnomAD v2:
X-18646678-C-T
gnomAD v4:
X-18628558-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18628558C>T , CM000685.2:g.18628558C>T | GRCh38 |
| NC_000023.10:g.18646678C>T , CM000685.1:g.18646678C>T | GRCh37 |
| NC_000023.9:g.18556599C>T | NCBI36 |
| NG_008475.1:g.207954C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623535.2:c.2684C>T MANE Select | ENSP00000485244.1:p.Pro895Leu | |
| ENST00000674046.1:c.2807C>T | ENSP00000501174.1:p.Pro936Leu | |
| ENST00000379989.6:c.2684C>T | ENSP00000369325.3:p.Pro895Leu | |
| ENST00000379996.7:c.2684C>T | ENSP00000369332.3:p.Pro895Leu | |
| ENST00000623535.1:c.2684C>T | ENSP00000485244.1:p.Pro895Leu | |
| NM_001037343.1:c.2684C>T | NP_001032420.1:p.Pro895Leu | |
| NM_003159.2:c.2684C>T | NP_003150.1:p.Pro895Leu | |
| XM_011545569.1:c.2756C>T | XP_011543871.1:p.Pro919Leu | |
| XM_011545570.1:c.2675C>T | XP_011543872.1:p.Pro892Leu | |
| XR_950484.1:n.3059C>T | ||
| NM_001323289.1:c.2684C>T | NP_001310218.1:p.Pro895Leu | |
| NM_001323289.2:c.2684C>T MANE Select | NP_001310218.1:p.Pro895Leu | |
| NM_001037343.2:c.2684C>T | NP_001032420.1:p.Pro895Leu | |
| NM_003159.3:c.2684C>T | NP_003150.1:p.Pro895Leu |