Linked Data
ClinVar Variation Id:
324231
dbSNP Id:
rs185658468
ExAC:
17:58235051 A / T
gnomAD v2:
17-58235051-A-T
gnomAD v3:
17-60157690-A-T
gnomAD v4:
17-60157690-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.60157690A>T , CM000679.2:g.60157690A>T | GRCh38 |
| NC_000017.10:g.58235051A>T , CM000679.1:g.58235051A>T | GRCh37 |
| NC_000017.9:g.55589833A>T | NCBI36 |
| NG_012050.1:g.12750A>T | |
| NG_012050.2:g.12750A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300900.9:c.415A>T MANE Select | ENSP00000300900.3:p.Met139Leu | |
| ENST00000300900.8:c.415A>T | ENSP00000300900.3:p.Met139Leu | |
| ENST00000586876.1:c.269-371A>T | ENSP00000467465.1:n.269-371A>T | |
| NM_000717.3:c.415A>T | NP_000708.1:p.Met139Leu | |
| XM_005257639.1:c.415A>T | XP_005257696.1:p.Met139Leu | |
| XM_011525183.1:c.145A>T | XP_011523485.1:p.Met49Leu | |
| NM_000717.4:c.415A>T | NP_000708.1:p.Met139Leu | |
| NR_137422.1:n.514A>T | ||
| XM_005257639.3:c.415A>T | XP_005257696.1:p.Met139Leu | |
| XM_011525183.2:c.145A>T | XP_011523485.1:p.Met49Leu | |
| XM_017025012.1:c.145A>T | XP_016880501.1:p.Met49Leu | |
| XR_001752604.2:n.508A>T | ||
| XR_001752605.2:n.508A>T | ||
| XR_001752606.2:n.508A>T | ||
| XR_001752607.2:n.508A>T | ||
| XR_001752608.2:n.508A>T | ||
| XR_001752609.2:n.508A>T | ||
| XR_001752610.2:n.508A>T | ||
| NM_000717.5:c.415A>T MANE Select | NP_000708.1:p.Met139Leu | |
| NR_137422.2:n.477A>T |