Linked Data
ClinVar Variation Id:
2296124
ClinVar RCV Id:
RCV004143190
dbSNP Id:
rs1237058103
gnomAD v2:
17-649016-A-C
gnomAD v3:
17-745776-A-C
gnomAD v4:
17-745776-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.745776A>C , CM000679.2:g.745776A>C | GRCh38 |
| NC_000017.10:g.649016A>C , CM000679.1:g.649016A>C | GRCh37 |
| NC_000017.9:g.595766A>C | NCBI36 |
| NG_046938.1:g.12097T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319004.6:c.2267T>G MANE Select | ENSP00000321706.5:p.Leu756Arg | |
| ENST00000319004.5:c.2267T>G | ENSP00000321706.5:p.Leu756Arg | |
| ENST00000576778.1:c.2234T>G | ENSP00000459565.1:p.Leu745Arg | |
| NM_015721.2:c.2267T>G | NP_056536.2:p.Leu756Arg | |
| XM_005256667.3:c.2279T>G | XP_005256724.1:p.Leu760Arg | |
| XM_005256668.3:c.2279T>G | XP_005256725.1:p.Leu760Arg | |
| XM_005256670.3:c.2234T>G | XP_005256727.1:p.Leu745Arg | |
| XM_011523910.1:c.2279T>G | XP_011522212.1:p.Leu760Arg | |
| XM_011523911.1:c.2279T>G | XP_011522213.1:p.Leu760Arg | |
| XM_011523912.1:c.2234T>G | XP_011522214.1:p.Leu745Arg | |
| XM_011523913.1:c.2234T>G | XP_011522215.1:p.Leu745Arg | |
| XM_005256667.4:c.2279T>G | XP_005256724.1:p.Leu760Arg | |
| XM_005256670.5:c.2234T>G | XP_005256727.1:p.Leu745Arg | |
| XM_011523910.2:c.2279T>G | XP_011522212.1:p.Leu760Arg | |
| XM_011523911.2:c.2279T>G | XP_011522213.1:p.Leu760Arg | |
| XM_011523912.2:c.2234T>G | XP_011522214.1:p.Leu745Arg | |
| XM_011523913.2:c.2234T>G | XP_011522215.1:p.Leu745Arg | |
| XM_017024709.1:c.2279T>G | XP_016880198.1:p.Leu760Arg | |
| NM_015721.3:c.2267T>G MANE Select | NP_056536.2:p.Leu756Arg |