Linked Data
ClinVar Variation Id:
281027
dbSNP Id:
rs143962150
ExAC:
17:48245867 T / C
gnomAD v2:
17-48245867-T-C
gnomAD v3:
17-50168506-T-C
gnomAD v4:
17-50168506-T-C
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50168506T>C , CM000679.2:g.50168506T>C | GRCh38 |
| NC_000017.10:g.48245867T>C , CM000679.1:g.48245867T>C | GRCh37 |
| NC_000017.9:g.45600866T>C | NCBI36 |
| NG_008889.1:g.7502T>C , LRG_203:g.7502T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504073.2:c.518T>C | ENSP00000422030.2:p.Leu173Pro | |
| ENST00000511303.6:n.243T>C | ||
| ENST00000512526.2:c.509T>C | ENSP00000426606.2:n.509T>C | |
| ENST00000682109.1:c.398T>C | ENSP00000508041.1:p.Leu133Pro | |
| ENST00000683226.1:n.228T>C | ||
| ENST00000683294.1:c.518T>C | ENSP00000508134.1:p.Leu173Pro | |
| ENST00000262018.8:c.518T>C MANE Select | ENSP00000262018.3:p.Leu173Pro | |
| ENST00000262018.7:c.518T>C | ENSP00000262018.3:p.Leu173Pro | |
| ENST00000344627.10:c.518T>C | ENSP00000345522.6:p.Leu173Pro | |
| ENST00000502555.5:c.*177T>C | ENSP00000422817.1:n.*177T>C | |
| ENST00000511303.5:c.239T>C | ENSP00000426104.1:p.Leu80Pro | |
| ENST00000512526.1:c.353T>C | ||
| ENST00000513821.5:c.518T>C | ENSP00000426571.1:p.Leu173Pro | |
| ENST00000513942.5:n.309T>C | ||
| ENST00000514934.1:c.*224T>C | ENSP00000423168.1:n.*224T>C | |
| NM_000023.2:c.518T>C , LRG_203t1:c.518T>C | NP_000014.1:p.Leu173Pro | |
| NM_001135697.1:c.518T>C | NP_001129169.1:p.Leu173Pro | |
| XM_011525120.1:c.518T>C | XP_011523422.1:p.Leu173Pro | |
| XM_011525121.1:c.518T>C | XP_011523423.1:p.Leu173Pro | |
| XM_011525122.1:c.518T>C | XP_011523424.1:p.Leu173Pro | |
| XM_011525123.1:c.518T>C | XP_011523425.1:p.Leu173Pro | |
| XM_011525124.1:c.212T>C | XP_011523426.1:p.Leu71Pro | |
| XR_934517.1:n.584T>C | ||
| NM_000023.3:c.518T>C | NP_000014.1:p.Leu173Pro | |
| NM_001135697.2:c.518T>C | NP_001129169.1:p.Leu173Pro | |
| NR_135553.1:n.574T>C | ||
| XM_011525120.2:c.680T>C | XP_011523422.2:p.Leu227Pro | |
| XM_011525121.2:c.680T>C | XP_011523423.2:p.Leu227Pro | |
| XM_011525122.2:c.680T>C | XP_011523424.2:p.Leu227Pro | |
| XM_011525123.2:c.680T>C | XP_011523425.2:p.Leu227Pro | |
| XM_011525124.2:c.212T>C | XP_011523426.1:p.Leu71Pro | |
| XM_024450873.1:c.212T>C | XP_024306641.1:p.Leu71Pro | |
| XR_002958056.1:n.1036T>C | ||
| NM_000023.4:c.518T>C MANE Select | NP_000014.1:p.Leu173Pro | |
| NM_001135697.3:c.518T>C | NP_001129169.1:p.Leu173Pro | |
| NR_135553.2:n.554T>C |