Linked Data
ClinVar Variation Id:
521372
dbSNP Id:
rs1468358104
gnomAD v2:
1-213031796-T-C
gnomAD v4:
1-212858454-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.212858454T>C , CM000663.2:g.212858454T>C | GRCh38 |
| NC_000001.10:g.213031796T>C , CM000663.1:g.213031796T>C | GRCh37 |
| NC_000001.9:g.211098419T>C | NCBI36 |
| NG_028131.1:g.5200T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366971.9:c.2T>C MANE Select | ENSP00000355938.4:p.Met1Thr | |
| ENST00000366971.8:c.2T>C | ENSP00000355938.4:p.Met1Thr | |
| NM_014053.3:c.2T>C | NP_054772.1:p.Met1Thr | |
| XM_011509446.1:c.2T>C | XP_011507748.1:p.Met1Thr | |
| XM_011509447.1:c.2T>C | XP_011507749.1:p.Met1Thr | |
| XM_011509448.1:c.2T>C | XP_011507750.1:p.Met1Thr | |
| XR_247024.1:n.176T>C | ||
| XR_426771.1:n.176T>C | ||
| XR_426772.2:n.176T>C | ||
| XR_921769.1:n.176T>C | ||
| XM_011509446.3:c.2T>C | XP_011507748.1:p.Met1Thr | |
| XM_011509447.2:c.2T>C | XP_011507749.1:p.Met1Thr | |
| XR_247024.3:n.176T>C | ||
| XR_426772.3:n.176T>C | ||
| NM_014053.4:c.2T>C MANE Select | NP_054772.1:p.Met1Thr |