Linked Data
ClinVar Variation Id:
2837998
ClinVar RCV Id:
RCV003750046
dbSNP Id:
rs1215860518
gnomAD v2:
8-48730044-G-A
gnomAD v4:
8-47817483-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.47817483G>A , CM000670.2:g.47817483G>A | GRCh38 |
| NC_000008.10:g.48730044G>A , CM000670.1:g.48730044G>A | GRCh37 |
| NC_000008.9:g.48892597G>A | NCBI36 |
| NG_023435.1:g.147701C>T , LRG_162:g.147701C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697603.1:c.2201C>T | ENSP00000513358.1:p.Pro734Leu | |
| ENST00000697607.1:n.1056C>T | ||
| ENST00000314191.7:c.9524C>T MANE Select | ENSP00000313420.3:p.Pro3175Leu | |
| ENST00000314191.6:c.9524C>T | ENSP00000313420.3:p.Pro3175Leu | |
| ENST00000338368.7:c.9524C>T | ENSP00000345182.4:p.Pro3175Leu | |
| NM_001081640.1:c.9524C>T | NP_001075109.1:p.Pro3175Leu | |
| NM_006904.6:c.9524C>T , LRG_162t1:c.9524C>T | NP_008835.5:p.Pro3175Leu | |
| XM_011517567.1:c.9527C>T | XP_011515869.1:p.Pro3176Leu | |
| XM_011517568.1:c.9527C>T | XP_011515870.1:p.Pro3176Leu | |
| NM_001081640.2:c.9524C>T | NP_001075109.1:p.Pro3175Leu | |
| NM_006904.7:c.9524C>T MANE Select | NP_008835.5:p.Pro3175Leu |