Linked Data
ClinVar Variation Id:
1599516
ClinVar RCV Id:
RCV002115960
dbSNP Id:
rs79788801
ExAC:
6:121602795 C / T
gnomAD v2:
6-121602795-C-T
gnomAD v3:
6-121281649-C-T
gnomAD v4:
6-121281649-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.121281649C>T , CM000668.2:g.121281649C>T | GRCh38 |
| NC_000006.11:g.121602795C>T , CM000668.1:g.121602795C>T | GRCh37 |
| NC_000006.10:g.121644494C>T | NCBI36 |
| NG_034203.1:g.57852G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000275159.11:c.1503G>A | ENSP00000275159.6:p.Leu501= | |
| ENST00000398212.7:c.1503G>A MANE Select | ENSP00000381270.2:p.Leu501= | |
| ENST00000275159.10:c.1503G>A | ENSP00000275159.6:p.Leu501= | |
| ENST00000398212.6:c.1503G>A | ENSP00000381270.2:p.Leu501= | |
| ENST00000464622.5:c.*1194G>A | ENSP00000428839.1:n.*1194G>A | |
| NM_152730.5:c.1503G>A | NP_689943.4:p.Leu501= | |
| NR_104452.1:n.1591G>A | ||
| XM_005266861.2:c.1503G>A | XP_005266918.1:p.Leu501= | |
| XM_011535569.1:c.1503G>A | XP_011533871.1:p.Leu501= | |
| XM_011535570.1:c.1503G>A | XP_011533872.1:p.Leu501= | |
| XM_011535571.1:c.1503G>A | XP_011533873.1:p.Leu501= | |
| XM_011535572.1:c.1503G>A | XP_011533874.1:p.Leu501= | |
| XM_011535573.1:c.1377G>A | XP_011533875.1:p.Leu459= | |
| XM_011535574.1:c.1176G>A | XP_011533876.1:p.Leu392= | |
| XM_011535575.1:c.1503G>A | XP_011533877.1:p.Leu501= | |
| XM_011535576.1:c.1503G>A | XP_011533878.1:p.Leu501= | |
| XM_011535577.1:c.1503G>A | XP_011533879.1:p.Leu501= | |
| XM_011535578.1:c.1503G>A | XP_011533880.1:p.Leu501= | |
| XM_011535579.1:c.324G>A | XP_011533881.1:p.Leu108= | |
| XM_011535580.1:c.324G>A | XP_011533882.1:p.Leu108= | |
| XM_011535581.1:c.1503G>A | XP_011533883.1:p.Leu501= | |
| XM_011535582.1:c.1503G>A | XP_011533884.1:p.Leu501= | |
| XM_011535583.1:c.1503G>A | XP_011533885.1:p.Leu501= | |
| XM_011535584.1:c.1503G>A | XP_011533886.1:p.Leu501= | |
| XM_011535585.1:c.1503G>A | XP_011533887.1:p.Leu501= | |
| XM_011535586.1:c.1503G>A | XP_011533888.1:p.Leu501= | |
| XR_942343.1:n.1573G>A | ||
| XR_942345.1:n.1573G>A | ||
| XR_942346.1:n.1573G>A | ||
| XM_005266861.3:c.1503G>A | XP_005266918.1:p.Leu501= | |
| XM_011535569.2:c.1503G>A | XP_011533871.1:p.Leu501= | |
| XM_011535571.3:c.1503G>A | XP_011533873.1:p.Leu501= | |
| XM_011535575.3:c.1503G>A | XP_011533877.1:p.Leu501= | |
| XM_011535576.2:c.1503G>A | XP_011533878.1:p.Leu501= | |
| XM_011535580.2:c.324G>A | XP_011533882.1:p.Leu108= | |
| XM_011535582.3:c.1503G>A | XP_011533884.1:p.Leu501= | |
| XM_011535585.2:c.1503G>A | XP_011533887.1:p.Leu501= | |
| XM_017010397.1:c.1503G>A | XP_016865886.1:p.Leu501= | |
| XM_017010398.2:c.1503G>A | XP_016865887.1:p.Leu501= | |
| XM_017010399.1:c.1503G>A | XP_016865888.1:p.Leu501= | |
| XM_017010400.1:c.1377G>A | XP_016865889.1:p.Leu459= | |
| XM_017010401.1:c.1503G>A | XP_016865890.1:p.Leu501= | |
| XM_017010402.2:c.1503G>A | XP_016865891.1:p.Leu501= | |
| XM_017010403.1:c.1503G>A | XP_016865892.1:p.Leu501= | |
| XM_017010405.1:c.1503G>A | XP_016865894.1:p.Leu501= | |
| XR_001743231.1:n.1621G>A | ||
| XR_001743232.2:n.1571G>A | ||
| XR_942346.2:n.1621G>A | ||
| NM_001367759.1:c.1503G>A | NP_001354688.1:p.Leu501= | |
| NM_001367760.1:c.1503G>A | NP_001354689.1:p.Leu501= | |
| NM_152730.6:c.1503G>A MANE Select | NP_689943.4:p.Leu501= | |
| NR_104452.2:n.1571G>A |