Linked Data
ClinVar Variation Id:
142374
ClinVar RCV Id:
RCV000131458
RCV000199946
RCV000212747
RCV000735122
RCV002225444
RCV003492622
RCV003905237
dbSNP Id:
rs141137543
ExAC:
8:90967554 T / G
gnomAD v2:
8-90967554-T-G
gnomAD v3:
8-89955326-T-G
gnomAD v4:
8-89955326-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89955326T>G , CM000670.2:g.89955326T>G | GRCh38 |
| NC_000008.10:g.90967554T>G , CM000670.1:g.90967554T>G | GRCh37 |
| NC_000008.9:g.91036730T>G | NCBI36 |
| NG_008860.1:g.34346A>C , LRG_158:g.34346A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494804.2:n.2656A>C | ||
| ENST00000517337.2:c.1108A>C | ENSP00000429971.2:p.Thr370Pro | |
| ENST00000523444.2:c.1108A>C | ENSP00000428252.2:p.Thr370Pro | |
| ENST00000697292.1:c.1354A>C | ENSP00000513229.1:p.Thr452Pro | |
| ENST00000697293.1:c.1354A>C | ENSP00000513230.1:p.Thr452Pro | |
| ENST00000697294.1:c.*965A>C | ENSP00000513231.1:n.*965A>C | |
| ENST00000697295.1:c.*663A>C | ENSP00000513232.1:n.*663A>C | |
| ENST00000697296.1:c.*1022A>C | ENSP00000513233.1:n.*1022A>C | |
| ENST00000697297.1:n.3139A>C | ||
| ENST00000697298.1:c.1108A>C | ENSP00000513234.1:p.Thr370Pro | |
| ENST00000697299.1:c.1108A>C | ENSP00000513235.1:p.Thr370Pro | |
| ENST00000697300.1:c.*958A>C | ENSP00000513236.1:n.*958A>C | |
| ENST00000697301.1:c.*875A>C | ENSP00000513237.1:n.*875A>C | |
| ENST00000697302.1:c.*875A>C | ENSP00000513238.1:n.*875A>C | |
| ENST00000697303.1:c.*958A>C | ENSP00000513239.1:n.*958A>C | |
| ENST00000697304.1:c.1042A>C | ENSP00000513240.1:p.Thr348Pro | |
| ENST00000697306.1:c.*354A>C | ENSP00000513241.1:n.*354A>C | |
| ENST00000697307.1:c.1354A>C | ENSP00000513242.1:p.Thr452Pro | |
| ENST00000697308.1:c.1354A>C | ENSP00000513243.1:p.Thr452Pro | |
| ENST00000697309.1:c.1354A>C | ENSP00000513244.1:p.Thr452Pro | |
| ENST00000697310.1:c.1354A>C | ENSP00000513245.1:p.Thr452Pro | |
| ENST00000697311.1:c.1354A>C | ENSP00000513246.1:p.Thr452Pro | |
| ENST00000697312.1:c.*752A>C | ENSP00000513247.1:n.*752A>C | |
| ENST00000697313.1:n.2687+15038A>C | ||
| ENST00000697314.1:n.3145A>C | ||
| ENST00000697315.1:c.1354A>C | ENSP00000513248.1:p.Thr452Pro | |
| ENST00000697316.1:n.1475A>C | ||
| ENST00000697317.1:n.1464A>C | ||
| ENST00000697318.1:n.1466A>C | ||
| ENST00000265433.8:c.1354A>C MANE Select | ENSP00000265433.4:p.Thr452Pro | |
| ENST00000265433.7:c.1354A>C | ENSP00000265433.3:p.Thr452Pro | |
| ENST00000396252.6:c.*1227A>C | ENSP00000379551.2:n.*1227A>C | |
| ENST00000409330.5:c.1108A>C | ENSP00000386924.1:p.Thr370Pro | |
| NM_001024688.2:c.1108A>C | NP_001019859.1:p.Thr370Pro | |
| NM_002485.4:c.1354A>C , LRG_158t1:c.1354A>C | NP_002476.2:p.Thr452Pro | |
| XM_011517044.1:c.1330A>C | XP_011515346.1:p.Thr444Pro | |
| XM_011517045.1:c.1108A>C | XP_011515347.1:p.Thr370Pro | |
| XM_011517046.1:c.1354A>C | XP_011515348.1:p.Thr452Pro | |
| XR_928335.1:n.1491A>C | ||
| XM_017013460.1:c.475A>C | XP_016868949.1:p.Thr159Pro | |
| XM_017013462.2:c.475A>C | XP_016868951.1:p.Thr159Pro | |
| XM_024447163.1:c.1108A>C | XP_024302931.1:p.Thr370Pro | |
| XM_024447164.1:c.1108A>C | XP_024302932.1:p.Thr370Pro | |
| XM_024447165.1:c.475A>C | XP_024302933.1:p.Thr159Pro | |
| NM_002485.5:c.1354A>C MANE Select | NP_002476.2:p.Thr452Pro | |
| NM_001024688.3:c.1108A>C | NP_001019859.1:p.Thr370Pro |