Linked Data
dbSNP Id:
rs374716848
ExAC:
17:18049315 G / C
gnomAD v2:
17-18049315-G-C
gnomAD v3:
17-18146001-G-C
gnomAD v4:
17-18146001-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18146001G>C , CM000679.2:g.18146001G>C | GRCh38 |
| NC_000017.10:g.18049315G>C , CM000679.1:g.18049315G>C | GRCh37 |
| NC_000017.9:g.17990040G>C | NCBI36 |
| NG_011634.1:g.42296G>C | |
| NG_011634.2:g.42296G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647165.2:c.6403G>C MANE Select | ENSP00000495481.1:p.Val2135Leu | |
| ENST00000205890.9:c.6403G>C | ENSP00000205890.5:p.Val2135Leu | |
| ENST00000615845.4:c.6403G>C | ENSP00000481642.1:p.Val2135Leu | |
| NM_016239.3:c.6403G>C | NP_057323.3:p.Val2135Leu | |
| XM_011523917.1:c.6343G>C | XP_011522219.1:p.Val2115Leu | |
| XM_011523918.1:c.6342+1G>C | XP_011522220.1:n.6342+1G>C | |
| XM_011523921.1:c.6397G>C | XP_011522223.1:p.Val2133Leu | |
| XR_934037.1:n.7002G>C | ||
| XR_934038.1:n.7002G>C | ||
| XM_011523918.2:c.6342+1G>C | XP_011522220.1:n.6342+1G>C | |
| XM_017024714.2:c.6343G>C | XP_016880203.1:p.Val2115Leu | |
| XM_017024715.2:c.6406G>C | XP_016880204.1:p.Val2136Leu | |
| XM_024450781.1:c.6213+1409G>C | XP_024306549.1:n.6213+1409G>C | |
| NM_016239.4:c.6403G>C MANE Select | NP_057323.3:p.Val2135Leu |