Linked Data
ClinVar Variation Id:
1091874
ClinVar RCV Id:
RCV001411515
dbSNP Id:
rs782066597
ExAC:
X:148564673 T / C
gnomAD v2:
X-148564673-T-C
gnomAD v4:
X-149483142-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149483142T>C , CM000685.2:g.149483142T>C | GRCh38 |
| NC_000023.10:g.148564673T>C , CM000685.1:g.148564673T>C | GRCh37 |
| NC_000023.9:g.148372578T>C | NCBI36 |
| NG_011900.3:g.27193A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.1257A>G MANE Select | ENSP00000339801.6:p.Pro419= | |
| ENST00000651111.1:c.624A>G | ENSP00000498395.1:p.Pro208= | |
| ENST00000340855.10:c.1257A>G | ENSP00000339801.6:p.Pro419= | |
| ENST00000422081.6:c.624A>G | ENSP00000477056.1:p.Pro208= | |
| ENST00000441880.1:n.364A>G | ||
| NM_000202.6:c.1257A>G | NP_000193.1:p.Pro419= | |
| NM_001166550.2:c.987A>G | NP_001160022.1:p.Pro329= | |
| NM_000202.7:c.1257A>G | NP_000193.1:p.Pro419= | |
| NM_001166550.3:c.987A>G | NP_001160022.1:p.Pro329= | |
| NM_000202.8:c.1257A>G MANE Select | NP_000193.1:p.Pro419= | |
| NM_001166550.4:c.987A>G | NP_001160022.1:p.Pro329= |