Linked Data
ClinVar Variation Id:
848676
dbSNP Id:
rs142291012
gnomAD v3:
17-74919782-G-T
gnomAD v4:
17-74919782-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74919782G>T , CM000679.2:g.74919782G>T | GRCh38 |
| NC_000017.10:g.72915877G>T , CM000679.1:g.72915877G>T | GRCh37 |
| NC_000017.9:g.70427472G>T | NCBI36 |
| NG_007882.1:g.8475C>A | |
| NG_033062.1:g.508G>T | |
| NG_007882.2:g.8482C>A | |
| NG_033062.2:g.508G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614341.5:c.1054C>A MANE Select | ENSP00000480279.1:p.Leu352Met | |
| ENST00000579243.1:c.*653C>A | ENSP00000462568.1:n.*653C>A | |
| ENST00000614341.4:c.1054C>A | ENSP00000480279.1:p.Leu352Met | |
| NM_001282489.2:c.745C>A | NP_001269418.1:p.Leu249Met | |
| NM_173477.4:c.1054C>A | NP_775748.2:p.Leu352Met | |
| XM_011524296.1:c.745C>A | XP_011522598.1:p.Leu249Met | |
| XM_011524296.2:c.745C>A | XP_011522598.1:p.Leu249Met | |
| NM_173477.5:c.1054C>A MANE Select | NP_775748.2:p.Leu352Met | |
| NM_001282489.3:c.745C>A | NP_001269418.1:p.Leu249Met |