Linked Data
ClinVar Variation Id:
2286152
ClinVar RCV Id:
RCV004132988
dbSNP Id:
rs775555539
ExAC:
11:48145168 C / T
gnomAD v2:
11-48145168-C-T
gnomAD v3:
11-48123616-C-T
gnomAD v4:
11-48123616-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.48123616C>T , CM000673.2:g.48123616C>T | GRCh38 |
| NC_000011.9:g.48145168C>T , CM000673.1:g.48145168C>T | GRCh37 |
| NC_000011.8:g.48101744C>T | NCBI36 |
| NG_012209.1:g.148059C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698881.1:c.962C>T | ENSP00000514003.1:p.Pro321Leu | |
| ENST00000418331.7:c.620C>T MANE Select | ENSP00000400010.2:p.Pro207Leu | |
| ENST00000418331.6:c.620C>T | ENSP00000400010.2:p.Pro207Leu | |
| ENST00000440289.6:c.620C>T | ENSP00000409733.2:p.Pro207Leu | |
| ENST00000527952.1:c.356C>T | ENSP00000435618.1:p.Pro119Leu | |
| ENST00000613246.4:c.620C>T | ENSP00000477933.1:p.Pro207Leu | |
| ENST00000615445.4:c.620C>T | ENSP00000479342.1:p.Pro207Leu | |
| NM_001098503.1:c.620C>T | NP_001091973.1:p.Pro207Leu | |
| NM_002843.3:c.620C>T | NP_002834.3:p.Pro207Leu | |
| XM_011520249.1:c.653C>T | XP_011518551.1:p.Pro218Leu | |
| XR_930883.1:n.970C>T | ||
| XM_017018083.1:c.698C>T | XP_016873572.1:p.Pro233Leu | |
| XM_017018084.1:c.641C>T | XP_016873573.1:p.Pro214Leu | |
| XM_017018085.1:c.572C>T | XP_016873574.1:p.Pro191Leu | |
| XR_930883.2:n.1029C>T | ||
| NM_002843.4:c.620C>T MANE Select | NP_002834.3:p.Pro207Leu | |
| NM_001098503.2:c.620C>T | NP_001091973.1:p.Pro207Leu |