Linked Data
ClinVar Variation Id:
92624
dbSNP Id:
rs6831280
ExAC:
4:996165 G / A
gnomAD v2:
4-996165-G-A
gnomAD v3:
4-1002377-G-A
gnomAD v4:
4-1002377-G-A
PubMed:
PMID:20301341
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1002377G>A , CM000666.2:g.1002377G>A | GRCh38 |
| NC_000004.11:g.996165G>A , CM000666.1:g.996165G>A | GRCh37 |
| NC_000004.10:g.986165G>A | NCBI36 |
| NG_008103.1:g.20381G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.1081G>A | ENSP00000247933.4:p.Ala361Thr | |
| ENST00000514224.2:c.1081G>A MANE Select | ENSP00000425081.2:p.Ala361Thr | |
| ENST00000652070.1:n.1137G>A | ||
| ENST00000247933.8:c.1081G>A | ENSP00000247933.4:p.Ala361Thr | |
| ENST00000514224.1:c.685G>A | ENSP00000425081.1:p.Ala229Thr | |
| ENST00000514698.5:n.1188G>A | ||
| NM_000203.4:c.1081G>A | NP_000194.2:p.Ala361Thr | |
| NR_110313.1:n.1169G>A | ||
| XM_006713882.2:c.685G>A | XP_006713945.1:p.Ala229Thr | |
| XM_011513459.1:c.1147G>A | XP_011511761.1:p.Ala383Thr | |
| XM_011513460.1:c.940G>A | XP_011511762.1:p.Ala314Thr | |
| XM_011513461.1:c.874G>A | XP_011511763.1:p.Ala292Thr | |
| XM_011513462.1:c.793G>A | XP_011511764.1:p.Ala265Thr | |
| XM_011513463.1:c.793G>A | XP_011511765.1:p.Ala265Thr | |
| XR_924947.1:n.1150G>A | ||
| NM_000203.5:c.1081G>A MANE Select | NP_000194.2:p.Ala361Thr | |
| NM_001363576.1:c.685G>A | NP_001350505.1:p.Ala229Thr | |
| XM_011513461.2:c.874G>A | XP_011511763.1:p.Ala292Thr | |
| XM_017008163.1:c.121G>A | XP_016863652.1:p.Ala41Thr |