Linked Data
dbSNP Id:
rs2074190
ExAC:
17:45811210 A / T
gnomAD v2:
17-45811210-A-T
gnomAD v4:
17-47733844-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47733844A>T , CM000679.2:g.47733844A>T | GRCh38 |
| NC_000017.10:g.45811210A>T , CM000679.1:g.45811210A>T | GRCh37 |
| NC_000017.9:g.43166209A>T | NCBI36 |
| NG_012166.1:g.5601A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000177694.2:c.390A>T MANE Select | ENSP00000177694.1:p.Gly130= | |
| ENST00000177694.1:c.390A>T | ENSP00000177694.1:p.Gly130= | |
| ENST00000581328.1:n.420A>T | ||
| NM_013351.1:c.390A>T | NP_037483.1:p.Gly130= | |
| XM_011524698.1:c.390A>T | XP_011523000.1:p.Gly130= | |
| NM_013351.2:c.390A>T MANE Select | NP_037483.1:p.Gly130= |