Linked Data
ClinVar Variation Id:
1315
ClinVar RCV Id:
RCV000001378
dbSNP Id:
rs121909396
gnomAD v2:
20-3208945-T-C
gnomAD v3:
20-3228299-T-C
gnomAD v4:
20-3228299-T-C
PubMed:
PMID:17220209
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3228299T>C , CM000682.2:g.3228299T>C | GRCh38 |
| NC_000020.10:g.3208945T>C , CM000682.1:g.3208945T>C | GRCh37 |
| NC_000020.9:g.3156945T>C | NCBI36 |
| NG_017072.1:g.15943A>G | |
| NG_012093.2:g.24433T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642402.1:c.2518A>G MANE Select | ENSP00000493503.1:p.Met840Val | |
| ENST00000644011.1:c.2449A>G | ENSP00000496214.1:p.Met817Val | |
| ENST00000644692.1:c.2317A>G | ENSP00000493824.1:p.Met773Val | |
| ENST00000647296.1:c.2404A>G | ENSP00000495050.1:p.Met802Val | |
| ENST00000380056.7:c.2566A>G | ENSP00000369396.3:p.Met856Val | |
| ENST00000380059.7:c.2647A>G | ENSP00000369399.3:p.Met883Val | |
| ENST00000474451.5:c.*666A>G | ENSP00000476859.1:n.*666A>G | |
| ENST00000539553.6:c.2518A>G | ENSP00000441370.1:p.Met840Val | |
| NM_001174089.1:c.2518A>G | NP_001167560.1:p.Met840Val | |
| NM_001174090.1:c.2647A>G | NP_001167561.1:p.Met883Val | |
| NM_032034.3:c.2566A>G | NP_114423.1:p.Met856Val | |
| XM_005260856.3:c.2887A>G | XP_005260913.1:p.Met963Val | |
| XM_005260857.1:c.2461A>G | XP_005260914.1:p.Met821Val | |
| XM_011529383.1:c.2485A>G | XP_011527685.1:p.Met829Val | |
| XM_011529384.1:c.2461A>G | XP_011527686.1:p.Met821Val | |
| XM_011529385.1:c.2461A>G | XP_011527687.1:p.Met821Val | |
| XR_937167.1:n.2616A>G | ||
| NM_001363745.1:c.2404A>G | NP_001350674.1:p.Met802Val | |
| NR_135000.1:n.2616A>G | ||
| XM_005260856.5:c.2887A>G | XP_005260913.1:p.Met963Val | |
| XM_011529383.3:c.2485A>G | XP_011527685.1:p.Met829Val | |
| XM_017028093.1:c.2881A>G | XP_016883582.1:p.Met961Val | |
| XM_017028094.1:c.2461A>G | XP_016883583.1:p.Met821Val | |
| XM_017028096.1:c.2461A>G | XP_016883585.1:p.Met821Val | |
| XR_001754419.1:n.3061A>G | ||
| XR_001754420.2:n.3041A>G | ||
| NM_001174089.2:c.2518A>G MANE Select | NP_001167560.1:p.Met840Val | |
| NM_001363745.2:c.2404A>G | NP_001350674.1:p.Met802Val | |
| NM_001174090.2:c.2647A>G | NP_001167561.1:p.Met883Val | |
| NM_032034.4:c.2566A>G | NP_114423.1:p.Met856Val | |
| NM_001400277.1:c.2461A>G | NP_001387206.1:p.Met821Val | |
| NM_001400278.1:c.2461A>G | NP_001387207.1:p.Met821Val | |
| NM_001400279.1:c.2461A>G | NP_001387208.1:p.Met821Val | |
| NM_001400280.1:c.2533A>G | NP_001387209.1:p.Met845Val | |
| NR_174470.1:n.3041A>G | ||
| NR_174471.1:n.3026A>G |