Linked Data
ClinVar Variation Id:
2470255
ClinVar RCV Id:
RCV004261677
dbSNP Id:
rs1905072231
gnomAD v4:
17-30956376-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30956376G>C , CM000679.2:g.30956376G>C | GRCh38 |
| NC_000017.10:g.29283394G>C , CM000679.1:g.29283394G>C | GRCh37 |
| NC_000017.9:g.26307520G>C | NCBI36 |
| NG_051975.1:g.39641G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330889.8:c.1018G>C MANE Select | ENSP00000329468.3:p.Val340Leu | |
| ENST00000330889.7:c.1018G>C | ENSP00000329468.3:p.Val340Leu | |
| ENST00000470962.1:n.438G>C | ||
| ENST00000480980.1:n.452G>C | ||
| ENST00000580525.5:c.1036G>C | ENSP00000464121.1:p.Val346Leu | |
| ENST00000581285.5:c.934G>C | ENSP00000464155.1:p.Val312Leu | |
| ENST00000584828.5:c.387G>C | ||
| ENST00000585130.5:c.*617G>C | ENSP00000464120.1:n.*617G>C | |
| NM_018404.2:c.1018G>C | NP_060874.1:p.Val340Leu | |
| XM_005258008.2:c.1036G>C | XP_005258065.1:p.Val346Leu | |
| XM_005258011.2:c.973G>C | XP_005258068.1:p.Val325Leu | |
| XM_006721973.2:c.1036G>C | XP_006722036.1:p.Val346Leu | |
| XM_011524993.1:c.1033G>C | XP_011523295.1:p.Val345Leu | |
| XM_011524994.1:c.1015G>C | XP_011523296.1:p.Val339Leu | |
| NM_001346712.1:c.1036G>C | NP_001333641.1:p.Val346Leu | |
| NM_001346714.1:c.1015G>C | NP_001333643.1:p.Val339Leu | |
| NM_001346716.1:c.1018G>C | NP_001333645.1:p.Val340Leu | |
| NR_144488.1:n.1217G>C | ||
| XM_024450831.1:c.1018G>C | XP_024306599.1:p.Val340Leu | |
| XM_024450832.1:c.1033G>C | XP_024306600.1:p.Val345Leu | |
| XM_024450833.1:c.973G>C | XP_024306601.1:p.Val325Leu | |
| XM_024450834.1:c.1036G>C | XP_024306602.1:p.Val346Leu | |
| XM_024450835.1:c.652G>C | XP_024306603.1:p.Val218Leu | |
| NM_018404.3:c.1018G>C MANE Select | NP_060874.1:p.Val340Leu | |
| NM_001346712.2:c.1036G>C | NP_001333641.1:p.Val346Leu | |
| NM_001346714.2:c.1015G>C | NP_001333643.1:p.Val339Leu | |
| NM_001346716.2:c.1018G>C | NP_001333645.1:p.Val340Leu | |
| NR_144488.2:n.1008G>C |