Linked Data
ClinVar Variation Id:
92625
dbSNP Id:
rs6836258
ExAC:
4:996248 G / C
gnomAD v2:
4-996248-G-C
gnomAD v3:
4-1002460-G-C
gnomAD v4:
4-1002460-G-C
PubMed:
PMID:12509712
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1002460G>C , CM000666.2:g.1002460G>C | GRCh38 |
| NC_000004.11:g.996248G>C , CM000666.1:g.996248G>C | GRCh37 |
| NC_000004.10:g.986248G>C | NCBI36 |
| NG_008103.1:g.20464G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.1164G>C | ENSP00000247933.4:p.Thr388= | |
| ENST00000514224.2:c.1164G>C MANE Select | ENSP00000425081.2:p.Thr388= | |
| ENST00000652070.1:n.1220G>C | ||
| ENST00000247933.8:c.1164G>C | ENSP00000247933.4:p.Thr388= | |
| ENST00000514224.1:c.768G>C | ENSP00000425081.1:p.Thr256= | |
| ENST00000514698.5:n.1271G>C | ||
| NM_000203.4:c.1164G>C | NP_000194.2:p.Thr388= | |
| NR_110313.1:n.1252G>C | ||
| XM_006713882.2:c.768G>C | XP_006713945.1:p.Thr256= | |
| XM_011513459.1:c.1230G>C | XP_011511761.1:p.Thr410= | |
| XM_011513460.1:c.1023G>C | XP_011511762.1:p.Thr341= | |
| XM_011513461.1:c.957G>C | XP_011511763.1:p.Thr319= | |
| XM_011513462.1:c.876G>C | XP_011511764.1:p.Thr292= | |
| XM_011513463.1:c.876G>C | XP_011511765.1:p.Thr292= | |
| XR_924947.1:n.1233G>C | ||
| NM_000203.5:c.1164G>C MANE Select | NP_000194.2:p.Thr388= | |
| NM_001363576.1:c.768G>C | NP_001350505.1:p.Thr256= | |
| XM_011513461.2:c.957G>C | XP_011511763.1:p.Thr319= | |
| XM_017008163.1:c.204G>C | XP_016863652.1:p.Thr68= |