Linked Data
ClinVar Variation Id:
224703
dbSNP Id:
rs369654108
ExAC:
14:77769205 A / G
gnomAD v2:
14-77769205-A-G
gnomAD v3:
14-77302862-A-G
gnomAD v4:
14-77302862-A-G
PubMed:
PMID:27854218
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77302862A>G , CM000676.2:g.77302862A>G | GRCh38 |
| NC_000014.8:g.77769205A>G , CM000676.1:g.77769205A>G | GRCh37 |
| NC_000014.7:g.76838958A>G | NCBI36 |
| NG_008897.1:g.23021T>C , LRG_844:g.23021T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553863.6:c.110-1613T>C | ENSP00000508202.1:n.110-1613T>C | |
| ENST00000556394.2:c.357+1830T>C | ENSP00000451967.2:n.357+1830T>C | |
| ENST00000556880.6:n.653T>C | ||
| ENST00000682247.1:c.629T>C | ENSP00000507213.1:p.Met210Thr | |
| ENST00000682377.1:c.209T>C | ENSP00000507494.1:p.Met70Thr | |
| ENST00000682382.1:c.495+1830T>C | ||
| ENST00000682395.1:n.358T>C | ||
| ENST00000682459.1:n.293T>C | ||
| ENST00000682467.1:c.629T>C | ENSP00000508062.1:p.Met210Thr | |
| ENST00000682795.1:c.629T>C | ENSP00000507574.1:p.Met210Thr | |
| ENST00000682895.1:n.345T>C | ||
| ENST00000682955.1:n.211+1830T>C | ||
| ENST00000683188.1:c.342+1830T>C | ||
| ENST00000683300.1:c.109+1830T>C | ENSP00000507630.1:n.109+1830T>C | |
| ENST00000683328.1:c.109+1830T>C | ENSP00000508096.1:n.109+1830T>C | |
| ENST00000683380.1:n.293T>C | ||
| ENST00000683551.1:c.82T>C | ||
| ENST00000683828.1:c.498T>C | ||
| ENST00000684259.1:n.480T>C | ||
| ENST00000684549.1:n.367+1830T>C | ||
| ENST00000261534.9:c.629T>C MANE Select | ENSP00000261534.4:p.Met210Thr | |
| ENST00000261534.8:c.629T>C | ENSP00000261534.4:p.Met210Thr | |
| ENST00000452340.7:n.652T>C | ||
| ENST00000553863.5:n.293T>C | ||
| ENST00000554948.1:c.356T>C | ENSP00000452060.1:p.Met119Thr | |
| ENST00000555675.5:n.345T>C | ||
| ENST00000556326.5:c.*295T>C | ENSP00000450630.1:n.*295T>C | |
| ENST00000556880.5:n.653T>C | ||
| ENST00000557289.1:c.55+1830T>C | ENSP00000451115.1:n.55+1830T>C | |
| NM_013382.5:c.629T>C , LRG_844t1:c.629T>C | NP_037514.2:p.Met210Thr | |
| XM_011536675.1:c.629T>C | XP_011534977.1:p.Met210Thr | |
| XM_011536676.1:c.296T>C | XP_011534978.1:p.Met99Thr | |
| XM_011536677.1:c.547+1830T>C | XP_011534979.1:n.547+1830T>C | |
| XM_011536678.1:c.629T>C | XP_011534980.1:p.Met210Thr | |
| XM_011536679.1:c.-91+1830T>C | XP_011534981.1:n.-91+1830T>C | |
| XM_011536680.1:c.629T>C | XP_011534982.1:p.Met210Thr | |
| XR_943416.1:n.832T>C | ||
| XM_011536675.2:c.629T>C | XP_011534977.1:p.Met210Thr | |
| XM_011536676.2:c.296T>C | XP_011534978.1:p.Met99Thr | |
| XM_011536677.3:c.547+1830T>C | XP_011534979.1:n.547+1830T>C | |
| XR_001750279.1:n.829T>C | ||
| XR_001750282.1:n.833T>C | ||
| XR_943416.3:n.830T>C | ||
| NM_013382.6:c.629T>C | NP_037514.2:p.Met210Thr | |
| NM_013382.7:c.629T>C MANE Select | NP_037514.2:p.Met210Thr |