Linked Data
ClinVar Variation Id:
393067
ClinVar RCV Id:
RCV000423665
dbSNP Id:
rs1057524770
gnomAD v2:
X-153599564-G-A
gnomAD v4:
X-154371196-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154371196G>A , CM000685.2:g.154371196G>A | GRCh38 |
| NC_000023.10:g.153599564G>A , CM000685.1:g.153599564G>A | GRCh37 |
| NC_000023.9:g.153252758G>A | NCBI36 |
| NG_008677.1:g.1769G>A , LRG_745:g.1769G>A | |
| NG_011506.1:g.8443C>T | |
| NG_011506.2:g.8443C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.50C>T | ENSP00000353467.4:p.Pro17Leu | |
| ENST00000369850.10:c.50C>T MANE Select | ENSP00000358866.3:p.Pro17Leu | |
| ENST00000369856.8:c.-32C>T | ENSP00000358872.4:n.-32C>T | |
| ENST00000422373.6:c.50C>T | ENSP00000416926.2:p.Pro17Leu | |
| ENST00000610817.5:c.50C>T | ENSP00000480593.2:p.Pro17Leu | |
| ENST00000676696.1:c.50C>T | ENSP00000503392.1:p.Pro17Leu | |
| ENST00000344736.8:c.50C>T | ENSP00000358863.3:p.Pro17Leu | |
| ENST00000360319.8:c.50C>T | ENSP00000353467.4:p.Pro17Leu | |
| ENST00000369850.7:c.50C>T | ENSP00000358866.3:p.Pro17Leu | |
| ENST00000369856.7:c.-32C>T | ENSP00000358872.4:n.-32C>T | |
| ENST00000420627.5:c.8C>T | ENSP00000408921.1:p.Pro3Leu | |
| ENST00000422373.5:c.50C>T | ENSP00000416926.1:p.Pro17Leu | |
| ENST00000610817.4:c.-32C>T | ENSP00000480593.1:n.-32C>T | |
| NM_001110556.1:c.50C>T | NP_001104026.1:p.Pro17Leu | |
| NM_001456.3:c.50C>T | NP_001447.2:p.Pro17Leu | |
| XM_011531127.1:c.50C>T | XP_011529429.1:p.Pro17Leu | |
| XM_011531128.1:c.50C>T | XP_011529430.1:p.Pro17Leu | |
| XM_011531129.1:c.50C>T | XP_011529431.1:p.Pro17Leu | |
| XM_011531130.1:c.50C>T | XP_011529432.1:p.Pro17Leu | |
| XM_011531131.1:c.50C>T | XP_011529433.1:p.Pro17Leu | |
| NM_001110556.2:c.50C>T MANE Select | NP_001104026.1:p.Pro17Leu | |
| NM_001456.4:c.50C>T | NP_001447.2:p.Pro17Leu |