Linked Data
ClinVar Variation Id:
159265
ClinVar RCV Id:
RCV003231169
dbSNP Id:
rs200735877
ExAC:
5:176562246 A / G
gnomAD v2:
5-176562246-A-G
gnomAD v3:
5-177135245-A-G
gnomAD v4:
5-177135245-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177135245A>G , CM000667.2:g.177135245A>G | GRCh38 |
| NC_000005.9:g.176562246A>G , CM000667.1:g.176562246A>G | GRCh37 |
| NC_000005.8:g.176494852A>G | NCBI36 |
| NG_009821.1:g.7167A>G , LRG_512:g.7167A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000508896.7:c.-37+45A>G | ENSP00000423372.3:n.-37+45A>G | |
| ENST00000347982.9:c.-37+45A>G | ENSP00000343209.5:n.-37+45A>G | |
| ENST00000354179.9:c.-37+45A>G | ENSP00000346111.5:n.-37+45A>G | |
| ENST00000508896.6:c.-37+45A>G | ENSP00000423372.2:n.-37+45A>G | |
| ENST00000510954.6:n.213+45A>G | ||
| ENST00000511258.6:c.-37+45A>G | ENSP00000426428.2:n.-37+45A>G | |
| ENST00000638627.3:c.-255+45A>G | ENSP00000492679.3:n.-255+45A>G | |
| ENST00000644863.2:c.-471+45A>G | ENSP00000496157.2:n.-471+45A>G | |
| ENST00000685206.1:n.65+45A>G | ||
| ENST00000686993.1:c.-37+45A>G | ENSP00000510020.1:n.-37+45A>G | |
| ENST00000687453.1:c.142A>G | ENSP00000508426.1:p.Met48Val | |
| ENST00000689326.1:c.142A>G | ENSP00000509594.1:p.Met48Val | |
| ENST00000689345.1:c.-37+45A>G | ENSP00000509711.1:n.-37+45A>G | |
| ENST00000689549.1:n.289A>G | ||
| ENST00000439151.7:c.142A>G MANE Select | ENSP00000395929.2:p.Met48Val | |
| ENST00000638627.2:c.30+45A>G | ENSP00000492679.2:n.30+45A>G | |
| ENST00000644863.1:c.30+45A>G | ENSP00000496157.1:n.30+45A>G | |
| ENST00000347982.8:c.30+45A>G | ENSP00000343209.4:n.30+45A>G | |
| ENST00000354179.8:c.30+45A>G | ENSP00000346111.4:n.30+45A>G | |
| ENST00000439151.6:c.142A>G | ENSP00000395929.2:p.Met48Val | |
| ENST00000508896.5:c.30+45A>G | ENSP00000423372.1:n.30+45A>G | |
| ENST00000510954.5:c.30+45A>G | ENSP00000423982.1:n.30+45A>G | |
| ENST00000511258.5:c.30+45A>G | ENSP00000426428.1:n.30+45A>G | |
| ENST00000512992.1:n.289A>G | ||
| ENST00000602285.1:n.314A>G | ||
| NM_022455.4:c.142A>G , LRG_512t1:c.142A>G | NP_071900.2:p.Met48Val | |
| NM_172349.2:c.30+45A>G | NP_758859.1:n.30+45A>G | |
| XM_005265959.1:c.142A>G | XP_005266016.1:p.Met48Val | |
| XM_005265960.1:c.30+45A>G | XP_005266017.1:n.30+45A>G | |
| XM_005265961.1:c.30+45A>G | XP_005266018.1:n.30+45A>G | |
| XM_011534610.1:c.142A>G | XP_011532912.1:p.Met48Val | |
| XM_011534611.1:c.142A>G | XP_011532913.1:p.Met48Val | |
| XM_011534612.1:c.142A>G | XP_011532914.1:p.Met48Val | |
| XM_011534614.1:c.142A>G | XP_011532916.1:p.Met48Val | |
| XM_011534615.1:c.142A>G | XP_011532917.1:p.Met48Val | |
| XM_011534616.1:c.142A>G | XP_011532918.1:p.Met48Val | |
| NM_001365684.1:c.30+45A>G | NP_001352613.1:n.30+45A>G | |
| XM_024446150.1:c.142A>G | XP_024301918.1:p.Met48Val | |
| XM_024446151.1:c.142A>G | XP_024301919.1:p.Met48Val | |
| XM_024446152.1:c.142A>G | XP_024301920.1:p.Met48Val | |
| XM_024446153.1:c.142A>G | XP_024301921.1:p.Met48Val | |
| XM_024446154.1:c.142A>G | XP_024301922.1:p.Met48Val | |
| XM_024446155.1:c.30+45A>G | XP_024301923.1:n.30+45A>G | |
| XM_024446156.1:c.30+45A>G | XP_024301924.1:n.30+45A>G | |
| XM_024446158.1:c.30+45A>G | XP_024301926.1:n.30+45A>G | |
| XM_024446160.1:c.142A>G | XP_024301928.1:p.Met48Val | |
| XM_024446161.1:c.142A>G | XP_024301929.1:p.Met48Val | |
| NM_022455.5:c.142A>G MANE Select | NP_071900.2:p.Met48Val | |
| NM_172349.3:c.30+45A>G | NP_758859.1:n.30+45A>G |