Linked Data
dbSNP Id:
rs1411134221
gnomAD v4:
17-50168444-A-C
MyVariant Identifiers:
chr17:g.48245805A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50168444A>C , CM000679.2:g.50168444A>C | GRCh38 |
| NC_000017.10:g.48245805A>C , CM000679.1:g.48245805A>C | GRCh37 |
| NC_000017.9:g.45600804A>C | NCBI36 |
| NG_008889.1:g.7440A>C , LRG_203:g.7440A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504073.2:c.456A>C | ENSP00000422030.2:p.Thr152= | |
| ENST00000511303.6:n.181A>C | ||
| ENST00000512526.2:c.447A>C | ENSP00000426606.2:n.447A>C | |
| ENST00000682109.1:c.336A>C | ENSP00000508041.1:p.Thr112= | |
| ENST00000683226.1:n.166A>C | ||
| ENST00000683294.1:c.456A>C | ENSP00000508134.1:p.Thr152= | |
| ENST00000262018.8:c.456A>C MANE Select | ENSP00000262018.3:p.Thr152= | |
| ENST00000262018.7:c.456A>C | ENSP00000262018.3:p.Thr152= | |
| ENST00000344627.10:c.456A>C | ENSP00000345522.6:p.Thr152= | |
| ENST00000502555.5:c.*115A>C | ENSP00000422817.1:n.*115A>C | |
| ENST00000511303.5:c.177A>C | ENSP00000426104.1:p.Thr59= | |
| ENST00000512526.1:c.291A>C | ||
| ENST00000513821.5:c.456A>C | ENSP00000426571.1:p.Thr152= | |
| ENST00000513942.5:n.247A>C | ||
| ENST00000514934.1:c.*162A>C | ENSP00000423168.1:n.*162A>C | |
| NM_000023.2:c.456A>C , LRG_203t1:c.456A>C | NP_000014.1:p.Thr152= | |
| NM_001135697.1:c.456A>C | NP_001129169.1:p.Thr152= | |
| XM_011525120.1:c.456A>C | XP_011523422.1:p.Thr152= | |
| XM_011525121.1:c.456A>C | XP_011523423.1:p.Thr152= | |
| XM_011525122.1:c.456A>C | XP_011523424.1:p.Thr152= | |
| XM_011525123.1:c.456A>C | XP_011523425.1:p.Thr152= | |
| XM_011525124.1:c.150A>C | XP_011523426.1:p.Thr50= | |
| XR_934517.1:n.522A>C | ||
| NM_000023.3:c.456A>C | NP_000014.1:p.Thr152= | |
| NM_001135697.2:c.456A>C | NP_001129169.1:p.Thr152= | |
| NR_135553.1:n.512A>C | ||
| XM_011525120.2:c.618A>C | XP_011523422.2:p.Thr206= | |
| XM_011525121.2:c.618A>C | XP_011523423.2:p.Thr206= | |
| XM_011525122.2:c.618A>C | XP_011523424.2:p.Thr206= | |
| XM_011525123.2:c.618A>C | XP_011523425.2:p.Thr206= | |
| XM_011525124.2:c.150A>C | XP_011523426.1:p.Thr50= | |
| XM_024450873.1:c.150A>C | XP_024306641.1:p.Thr50= | |
| XR_002958056.1:n.974A>C | ||
| NM_000023.4:c.456A>C MANE Select | NP_000014.1:p.Thr152= | |
| NM_001135697.3:c.456A>C | NP_001129169.1:p.Thr152= | |
| NR_135553.2:n.492A>C |