Linked Data
dbSNP Id:
rs370362452
ExAC:
13:23910826 C / G
gnomAD v2:
13-23910826-C-G
gnomAD v3:
13-23336687-C-G
gnomAD v4:
13-23336687-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23336687C>G , CM000675.2:g.23336687C>G | GRCh38 |
| NC_000013.10:g.23910826C>G , CM000675.1:g.23910826C>G | GRCh37 |
| NC_000013.9:g.22808826C>G | NCBI36 |
| NG_012342.1:g.102016G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+17098G>C | ENSP00000508399.1:n.2185+17098G>C | |
| ENST00000682944.1:c.7216G>C | ENSP00000507173.1:p.Val2406Leu | |
| ENST00000683210.1:c.2185+17098G>C | ENSP00000506739.1:n.2185+17098G>C | |
| ENST00000683270.1:c.6445+735G>C | ENSP00000507624.1:n.6445+735G>C | |
| ENST00000683367.1:c.2177-7203G>C | ENSP00000507780.1:n.2177-7203G>C | |
| ENST00000683489.1:c.2291+4898G>C | ENSP00000508403.1:n.2291+4898G>C | |
| ENST00000683680.1:c.2318+4898G>C | ENSP00000507223.1:n.2318+4898G>C | |
| ENST00000684163.1:c.2204-7203G>C | ENSP00000508262.1:n.2204-7203G>C | |
| ENST00000684196.1:n.4543-7203G>C | ||
| ENST00000684325.1:c.2186-15013G>C | ENSP00000508121.1:n.2186-15013G>C | |
| ENST00000684385.1:c.2221-7203G>C | ENSP00000507855.1:n.2221-7203G>C | |
| ENST00000684497.1:c.2186-14043G>C | ENSP00000507057.1:n.2186-14043G>C | |
| ENST00000382292.9:c.7189G>C MANE Select | ENSP00000371729.3:p.Val2397Leu | |
| ENST00000423156.2:c.2186-7203G>C | ENSP00000390925.2:n.2186-7203G>C | |
| ENST00000455470.6:c.2431+4758G>C | ENSP00000406565.2:n.2431+4758G>C | |
| ENST00000382292.7:c.7189G>C | ENSP00000371729.3:p.Val2397Leu | |
| ENST00000382298.7:c.7189G>C | ENSP00000371735.3:p.Val2397Leu | |
| ENST00000402364.1:c.4939G>C | ENSP00000385844.1:p.Val1647Leu | |
| ENST00000423156.1:c.1058-7203G>C | ENSP00000390925.1:n.1058-7203G>C | |
| ENST00000455470.5:c.2129+4758G>C | ||
| NM_001278055.1:c.6748G>C | NP_001264984.1:p.Val2250Leu | |
| NM_014363.5:c.7189G>C | NP_055178.3:p.Val2397Leu | |
| XM_005266338.1:c.7216G>C | XP_005266395.1:p.Val2406Leu | |
| XM_011535038.1:c.7240G>C | XP_011533340.1:p.Val2414Leu | |
| XM_011535039.1:c.7207G>C | XP_011533341.1:p.Val2403Leu | |
| XM_005266338.2:c.7216G>C | XP_005266395.1:p.Val2406Leu | |
| XM_011535039.2:c.7207G>C | XP_011533341.1:p.Val2403Leu | |
| XM_017020539.1:c.7180G>C | XP_016876028.1:p.Val2394Leu | |
| XM_024449337.1:c.7216G>C | XP_024305105.1:p.Val2406Leu | |
| NM_014363.6:c.7189G>C MANE Select | NP_055178.3:p.Val2397Leu | |
| NM_001278055.2:c.6748G>C | NP_001264984.1:p.Val2250Leu |