Linked Data
ClinVar Variation Id:
1482069
ClinVar RCV Id:
RCV001994406
dbSNP Id:
rs781467817
ExAC:
5:177031491 G / C
gnomAD v2:
5-177031491-G-C
gnomAD v4:
5-177604490-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177604490G>C , CM000667.2:g.177604490G>C | GRCh38 |
| NC_000005.9:g.177031491G>C , CM000667.1:g.177031491G>C | GRCh37 |
| NC_000005.8:g.176964097G>C | NCBI36 |
| NG_015977.1:g.9373G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000029410.10:c.362G>C MANE Select | ENSP00000029410.5:p.Arg121Thr | |
| ENST00000029410.9:c.362G>C | ENSP00000029410.5:p.Arg121Thr | |
| ENST00000502420.1:n.341G>C | ||
| ENST00000505433.5:c.362G>C | ENSP00000425591.1:p.Arg121Thr | |
| ENST00000505468.1:c.20G>C | ENSP00000420886.1:p.Arg7Thr | |
| ENST00000507061.1:c.179G>C | ENSP00000423868.1:p.Arg60Thr | |
| ENST00000510761.1:c.20G>C | ENSP00000423438.1:p.Arg7Thr | |
| NM_007255.2:c.362G>C | NP_009186.1:p.Arg121Thr | |
| XM_005265805.2:c.20G>C | XP_005265862.1:p.Arg7Thr | |
| XM_006714816.2:c.-138G>C | XP_006714879.1:n.-138G>C | |
| XM_011534421.1:c.20G>C | XP_011532723.1:p.Arg7Thr | |
| XM_006714816.4:c.-138G>C | XP_006714879.1:n.-138G>C | |
| XM_017008999.2:c.20G>C | XP_016864488.1:p.Arg7Thr | |
| NM_007255.3:c.362G>C MANE Select | NP_009186.1:p.Arg121Thr |