Linked Data
dbSNP Id:
rs2145487497
gnomAD v4:
17-44867819-C-T
MyVariant Identifiers:
chr17:g.42945187C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44867819C>T , CM000679.2:g.44867819C>T | GRCh38 |
| NC_000017.10:g.42945187C>T , CM000679.1:g.42945187C>T | GRCh37 |
| NC_000017.9:g.40300713C>T | NCBI36 |
| NG_032674.1:g.36807G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426333.7:c.1137G>A MANE Select | ENSP00000392094.1:p.Lys379= | |
| ENST00000402521.7:c.1032G>A | ENSP00000385873.2:p.Lys344= | |
| ENST00000426333.6:c.1137G>A | ENSP00000392094.1:p.Lys379= | |
| ENST00000586654.5:n.192G>A | ||
| ENST00000590367.5:n.865G>A | ||
| ENST00000591382.5:c.1137G>A | ENSP00000467805.1:p.Lys379= | |
| ENST00000591856.1:c.258G>A | ENSP00000468284.1:n.258G>A | |
| ENST00000592576.5:c.1107G>A | ENSP00000465058.1:p.Lys369= | |
| NM_001142605.1:c.1032G>A | NP_001136077.1:p.Lys344= | |
| NM_001258353.1:c.1137G>A | NP_001245282.1:p.Lys379= | |
| NM_001258354.1:c.1107G>A | NP_001245283.1:p.Lys369= | |
| NM_004247.3:c.1137G>A | NP_004238.3:p.Lys379= | |
| XR_934602.1:n.1222G>A | ||
| XR_934602.3:n.1218G>A | ||
| NM_004247.4:c.1137G>A MANE Select | NP_004238.3:p.Lys379= | |
| NM_001142605.2:c.1032G>A | NP_001136077.1:p.Lys344= | |
| NM_001258353.2:c.1137G>A | NP_001245282.1:p.Lys379= | |
| NM_001258354.2:c.1107G>A | NP_001245283.1:p.Lys369= |