Linked Data
ClinVar Variation Id:
464456
ClinVar RCV Id:
RCV000529723
dbSNP Id:
rs760552006
ExAC:
17:73826478 A / G
gnomAD v2:
17-73826478-A-G
gnomAD v3:
17-75830397-A-G
gnomAD v4:
17-75830397-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75830397A>G , CM000679.2:g.75830397A>G | GRCh38 |
| NC_000017.10:g.73826478A>G , CM000679.1:g.73826478A>G | GRCh37 |
| NC_000017.9:g.71338073A>G | NCBI36 |
| NG_007266.1:g.19321T>C , LRG_122:g.19321T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699510.1:c.1661T>C | ENSP00000514405.1:p.Leu554Pro | |
| ENST00000207549.9:c.2795T>C MANE Select | ENSP00000207549.3:p.Leu932Pro | |
| ENST00000207549.8:c.2795T>C | ENSP00000207549.3:p.Leu932Pro | |
| ENST00000412096.6:c.2795T>C | ENSP00000388093.1:p.Leu932Pro | |
| ENST00000586519.1:c.41T>C | ENSP00000466149.1:p.Leu14Pro | |
| ENST00000590856.1:n.170T>C | ||
| NM_199242.2:c.2795T>C , LRG_122t1:c.2795T>C | NP_954712.1:p.Leu932Pro | |
| XM_011524504.1:c.2864T>C | XP_011522806.1:p.Leu955Pro | |
| XM_011524505.1:c.2864T>C | XP_011522807.1:p.Leu955Pro | |
| XM_011524506.1:c.2861T>C | XP_011522808.1:p.Leu954Pro | |
| XM_011524507.1:c.2255T>C | XP_011522809.1:p.Leu752Pro | |
| XM_011524508.1:c.2255T>C | XP_011522810.1:p.Leu752Pro | |
| XM_011524504.2:c.2864T>C | XP_011522806.1:p.Leu955Pro | |
| XM_011524507.2:c.2255T>C | XP_011522809.1:p.Leu752Pro | |
| XM_024450640.1:c.2255T>C | XP_024306408.1:p.Leu752Pro | |
| NM_199242.3:c.2795T>C MANE Select | NP_954712.1:p.Leu932Pro |