Linked Data
dbSNP Id:
rs756231547
ExAC:
17:56350981 A / G
gnomAD v2:
17-56350981-A-G
gnomAD v4:
17-58273620-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58273620A>G , CM000679.2:g.58273620A>G | GRCh38 |
| NC_000017.10:g.56350981A>G , CM000679.1:g.56350981A>G | GRCh37 |
| NC_000017.9:g.53705980A>G | NCBI36 |
| NG_009629.1:g.12316T>C , LRG_84:g.12316T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578493.2:n.748T>C | ||
| ENST00000699291.1:c.540T>C | ENSP00000514272.1:p.His180= | |
| ENST00000699292.1:n.455T>C | ||
| ENST00000225275.4:c.1415T>C MANE Select | ENSP00000225275.3:p.Met472Thr | |
| ENST00000225275.3:c.1415T>C | ENSP00000225275.3:p.Met472Thr | |
| NM_000250.1:c.1415T>C , LRG_84t1:c.1415T>C | NP_000241.1:p.Met472Thr | |
| XM_011524821.1:c.1601T>C | XP_011523123.1:p.Met534Thr | |
| XM_011524822.1:c.1130T>C | XP_011523124.1:p.Met377Thr | |
| XM_011524823.1:c.1440T>C | XP_011523125.1:p.His480= | |
| NM_000250.2:c.1415T>C MANE Select | NP_000241.1:p.Met472Thr |