Linked Data
ClinVar Variation Id:
373423
dbSNP Id:
rs782407440
ExAC:
X:153219080 G / C
gnomAD v2:
X-153219080-G-C
gnomAD v3:
X-153953629-G-C
gnomAD v4:
X-153953629-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153953629G>C , CM000685.2:g.153953629G>C | GRCh38 |
| NC_000023.10:g.153219080G>C , CM000685.1:g.153219080G>C | GRCh37 |
| NC_000023.9:g.152872274G>C | NCBI36 |
| NG_012513.1:g.22740C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310441.12:c.4475C>G MANE Select | ENSP00000309555.7:p.Pro1492Arg | |
| ENST00000310441.11:c.4475C>G | ENSP00000309555.7:p.Pro1492Arg | |
| ENST00000369984.4:c.4475C>G | ENSP00000359001.4:p.Pro1492Arg | |
| ENST00000444191.5:c.198C>G | ||
| NM_005334.2:c.4475C>G | NP_005325.2:p.Pro1492Arg | |
| XM_006724815.1:c.4475C>G | XP_006724878.1:p.Pro1492Arg | |
| XM_006724816.1:c.4475C>G | XP_006724879.1:p.Pro1492Arg | |
| XM_011531144.1:c.4475C>G | XP_011529446.1:p.Pro1492Arg | |
| XM_011531145.1:c.4475C>G | XP_011529447.1:p.Pro1492Arg | |
| XM_011531146.1:c.4475C>G | XP_011529448.1:p.Pro1492Arg | |
| XM_011531147.1:c.4475C>G | XP_011529449.1:p.Pro1492Arg | |
| XM_011531148.1:c.4475C>G | XP_011529450.1:p.Pro1492Arg | |
| XM_011531149.1:c.4277C>G | XP_011529451.1:p.Pro1426Arg | |
| XM_011531150.1:c.3566C>G | XP_011529452.1:p.Pro1189Arg | |
| XM_006724815.3:c.4475C>G | XP_006724878.1:p.Pro1492Arg | |
| XM_006724816.3:c.4475C>G | XP_006724879.1:p.Pro1492Arg | |
| XM_011531147.3:c.4475C>G | XP_011529449.1:p.Pro1492Arg | |
| XM_011531148.3:c.4475C>G | XP_011529450.1:p.Pro1492Arg | |
| XM_017029471.2:c.4277C>G | XP_016884960.1:p.Pro1426Arg | |
| XM_017029472.1:c.3566C>G | XP_016884961.1:p.Pro1189Arg | |
| NM_005334.3:c.4475C>G MANE Select | NP_005325.2:p.Pro1492Arg |