Linked Data
ClinVar Variation Id:
445809
dbSNP Id:
rs1302879683
gnomAD v2:
15-72978570-T-C
gnomAD v4:
15-72686229-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72686229T>C , CM000677.2:g.72686229T>C | GRCh38 |
| NC_000015.9:g.72978570T>C , CM000677.1:g.72978570T>C | GRCh37 |
| NC_000015.8:g.70765623T>C | NCBI36 |
| NG_009416.2:g.5045T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268057.9:c.2T>C MANE Select | ENSP00000268057.4:p.Met1Thr | |
| ENST00000268057.8:c.2T>C | ENSP00000268057.4:p.Met1Thr | |
| ENST00000395205.6:c.-468T>C | ENSP00000378631.3:n.-468T>C | |
| ENST00000561914.5:c.2T>C | ENSP00000457795.1:p.Met1Thr | |
| ENST00000562084.5:c.2T>C | ENSP00000454718.1:p.Met1Thr | |
| ENST00000563600.5:c.2T>C | ENSP00000457753.1:p.Met1Thr | |
| ENST00000565160.5:c.2T>C | ENSP00000455412.1:p.Met1Thr | |
| ENST00000566400.5:c.2T>C | ENSP00000456759.1:p.Met1Thr | |
| ENST00000566938.5:c.2T>C | ENSP00000456463.1:p.Met1Thr | |
| ENST00000567279.5:c.2T>C | ENSP00000456664.1:p.Met1Thr | |
| ENST00000569440.5:c.2T>C | ENSP00000457958.1:p.Met1Thr | |
| NM_001252678.1:c.-468T>C | NP_001239607.1:n.-468T>C | |
| NM_033028.4:c.2T>C | NP_149017.2:p.Met1Thr | |
| NR_045565.1:n.51T>C | ||
| NR_045566.1:n.51T>C | ||
| XM_006720625.2:c.2T>C | XP_006720688.1:p.Met1Thr | |
| XM_011521848.1:c.-520T>C | XP_011520150.1:n.-520T>C | |
| XM_011521849.1:c.-403T>C | XP_011520151.1:n.-403T>C | |
| XM_011521851.1:c.-612T>C | XP_011520153.1:n.-612T>C | |
| NM_001320665.1:c.2T>C | NP_001307594.1:p.Met1Thr | |
| XM_017022450.1:c.-288T>C | XP_016877939.1:n.-288T>C | |
| XM_017022452.1:c.-716T>C | XP_016877941.1:n.-716T>C | |
| XM_017022453.1:c.-408T>C | XP_016877942.1:n.-408T>C | |
| XM_017022454.1:c.-356T>C | XP_016877943.1:n.-356T>C | |
| NM_033028.5:c.2T>C MANE Select | NP_149017.2:p.Met1Thr | |
| NM_001252678.2:c.-468T>C | NP_001239607.1:n.-468T>C | |
| NM_001320665.2:c.2T>C | NP_001307594.1:p.Met1Thr | |
| NR_045565.2:n.23T>C | ||
| NR_045566.2:n.23T>C |