Linked Data
ClinVar Variation Id:
2730958
ClinVar RCV Id:
RCV003511371
dbSNP Id:
rs782657740
gnomAD v2:
X-148564708-G-C
gnomAD v4:
X-149483177-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149483177G>C , CM000685.2:g.149483177G>C | GRCh38 |
| NC_000023.10:g.148564708G>C , CM000685.1:g.148564708G>C | GRCh37 |
| NC_000023.9:g.148372613G>C | NCBI36 |
| NG_011900.3:g.27158C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.1222C>G MANE Select | ENSP00000339801.6:p.Pro408Ala | |
| ENST00000651111.1:c.589C>G | ENSP00000498395.1:p.Pro197Ala | |
| ENST00000340855.10:c.1222C>G | ENSP00000339801.6:p.Pro408Ala | |
| ENST00000422081.6:c.589C>G | ENSP00000477056.1:p.Pro197Ala | |
| ENST00000441880.1:n.329C>G | ||
| NM_000202.6:c.1222C>G | NP_000193.1:p.Pro408Ala | |
| NM_001166550.2:c.952C>G | NP_001160022.1:p.Pro318Ala | |
| NM_000202.7:c.1222C>G | NP_000193.1:p.Pro408Ala | |
| NM_001166550.3:c.952C>G | NP_001160022.1:p.Pro318Ala | |
| NM_000202.8:c.1222C>G MANE Select | NP_000193.1:p.Pro408Ala | |
| NM_001166550.4:c.952C>G | NP_001160022.1:p.Pro318Ala |