Linked Data
ClinVar Variation Id:
1509031
ClinVar RCV Id:
RCV002040570
dbSNP Id:
rs2123994251
gnomAD v4:
X-149482960-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.149482960G>A , CM000685.2:g.149482960G>A | GRCh38 |
| NC_000023.10:g.148564491G>A , CM000685.1:g.148564491G>A | GRCh37 |
| NC_000023.9:g.148372396G>A | NCBI36 |
| NG_011900.3:g.27375C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340855.11:c.1439C>T MANE Select | ENSP00000339801.6:p.Pro480Leu | |
| ENST00000651111.1:c.806C>T | ENSP00000498395.1:p.Pro269Leu | |
| ENST00000340855.10:c.1439C>T | ENSP00000339801.6:p.Pro480Leu | |
| ENST00000422081.6:c.806C>T | ENSP00000477056.1:p.Pro269Leu | |
| NM_000202.6:c.1439C>T | NP_000193.1:p.Pro480Leu | |
| NM_001166550.2:c.1169C>T | NP_001160022.1:p.Pro390Leu | |
| NM_000202.7:c.1439C>T | NP_000193.1:p.Pro480Leu | |
| NM_001166550.3:c.1169C>T | NP_001160022.1:p.Pro390Leu | |
| NM_000202.8:c.1439C>T MANE Select | NP_000193.1:p.Pro480Leu | |
| NM_001166550.4:c.1169C>T | NP_001160022.1:p.Pro390Leu |