Linked Data
ClinVar Variation Id:
6209
ClinVar RCV Id:
RCV000006587
dbSNP Id:
rs72552272
gnomAD v2:
14-23244747-A-C
gnomAD v3:
14-22775538-A-C
gnomAD v4:
14-22775538-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.22775538A>C , CM000676.2:g.22775538A>C | GRCh38 |
| NC_000014.8:g.23244747A>C , CM000676.1:g.23244747A>C | GRCh37 |
| NC_000014.7:g.22314587A>C | NCBI36 |
| NG_012851.2:g.59283T>G , LRG_695:g.59283T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555911.2:c.1001T>G | ENSP00000452551.2:p.Leu334Arg | |
| ENST00000698939.1:c.*67T>G | ENSP00000514047.1:n.*67T>G | |
| ENST00000698940.1:n.63T>G | ||
| ENST00000397532.9:c.1001T>G | ENSP00000380666.4:p.Leu334Arg | |
| ENST00000674313.1:c.1001T>G MANE Select | ENSP00000501493.1:p.Leu334Arg | |
| ENST00000285850.11:c.1001T>G | ENSP00000285850.7:p.Leu334Arg | |
| ENST00000397528.8:c.1001T>G | ENSP00000380662.4:p.Leu334Arg | |
| ENST00000397529.6:c.1001T>G | ENSP00000380663.2:p.Leu334Arg | |
| ENST00000397532.7:c.1001T>G | ENSP00000380666.3:p.Leu334Arg | |
| ENST00000554061.5:n.672T>G | ||
| ENST00000554517.5:c.203T>G | ENSP00000452083.1:p.Leu68Arg | |
| ENST00000555678.1:n.262T>G | ||
| ENST00000555702.5:c.1001T>G | ENSP00000451881.1:p.Leu334Arg | |
| ENST00000556287.5:c.897T>G | ENSP00000450715.1:p.Ala299= | |
| ENST00000556350.1:c.145T>G | ||
| NM_001126105.2:c.1001T>G , LRG_695t1:c.1001T>G | NP_001119577.1:p.Leu334Arg | |
| NM_001126106.2:c.1001T>G , LRG_695t2:c.1001T>G | NP_001119578.1:p.Leu334Arg | |
| NR_040448.1:n.1616T>G | ||
| XM_006720302.1:c.1001T>G | XP_006720365.1:p.Leu334Arg | |
| XM_011537298.1:c.1001T>G | XP_011535600.1:p.Leu334Arg | |
| XM_011537299.1:c.1001T>G | XP_011535601.1:p.Leu334Arg | |
| XM_006720302.2:c.1001T>G | XP_006720365.1:p.Leu334Arg | |
| XM_011537298.3:c.1001T>G | XP_011535600.1:p.Leu334Arg | |
| NM_001126105.3:c.1001T>G | NP_001119577.1:p.Leu334Arg | |
| NM_001126106.4:c.1001T>G | NP_001119578.1:p.Leu334Arg | |
| NM_003982.4:c.1001T>G MANE Select | NP_003973.3:p.Leu334Arg |