Linked Data
ClinVar Variation Id:
2562115
ClinVar RCV Id:
RCV003310175
dbSNP Id:
rs745921537
ExAC:
9:97934413 A / G
gnomAD v2:
9-97934413-A-G
gnomAD v4:
9-95172131-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.95172131A>G , CM000671.2:g.95172131A>G | GRCh38 |
| NC_000009.11:g.97934413A>G , CM000671.1:g.97934413A>G | GRCh37 |
| NC_000009.10:g.96974234A>G | NCBI36 |
| NG_011707.1:g.150579T>C , LRG_497:g.150579T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696261.1:n.753T>C | ||
| ENST00000289081.8:c.362T>C MANE Select | ENSP00000289081.3:p.Ile121Thr | |
| ENST00000375305.6:c.362T>C | ENSP00000364454.1:p.Ile121Thr | |
| ENST00000490972.7:c.362T>C | ENSP00000479931.1:p.Ile121Thr | |
| ENST00000636777.1:n.420T>C | ||
| ENST00000647778.1:c.362T>C | ENSP00000498125.1:p.Ile121Thr | |
| ENST00000647882.1:c.362T>C | ENSP00000497025.1:p.Ile121Thr | |
| ENST00000649334.1:c.507T>C | ENSP00000497735.1:n.507T>C | |
| ENST00000649701.1:n.77T>C | ||
| ENST00000289081.7:c.362T>C | ENSP00000289081.3:p.Ile121Thr | |
| ENST00000375305.5:c.362T>C | ENSP00000364454.1:p.Ile121Thr | |
| ENST00000433829.1:c.362T>C | ENSP00000406908.1:p.Ile121Thr | |
| ENST00000474949.1:n.719T>C | ||
| ENST00000490972.6:c.362T>C | ENSP00000479931.1:p.Ile121Thr | |
| NM_000136.2:c.362T>C , LRG_497t1:c.362T>C | NP_000127.2:p.Ile121Thr | |
| NM_001243743.1:c.362T>C | NP_001230672.1:p.Ile121Thr | |
| NM_001243744.1:c.362T>C | NP_001230673.1:p.Ile121Thr | |
| XM_006717001.1:c.362T>C | XP_006717064.1:p.Ile121Thr | |
| XM_006717002.2:c.362T>C | XP_006717065.1:p.Ile121Thr | |
| XM_006717004.2:c.362T>C | XP_006717067.1:p.Ile121Thr | |
| XM_011518365.1:c.362T>C | XP_011516667.1:p.Ile121Thr | |
| XM_011518366.1:c.362T>C | XP_011516668.1:p.Ile121Thr | |
| XM_011518367.1:c.-95T>C | XP_011516669.1:n.-95T>C | |
| XM_006717001.3:c.362T>C | XP_006717064.1:p.Ile121Thr | |
| XM_006717002.4:c.362T>C | XP_006717065.1:p.Ile121Thr | |
| XM_006717004.4:c.362T>C | XP_006717067.1:p.Ile121Thr | |
| XM_011518365.3:c.362T>C | XP_011516667.1:p.Ile121Thr | |
| XM_011518366.3:c.362T>C | XP_011516668.1:p.Ile121Thr | |
| XM_011518367.2:c.-95T>C | XP_011516669.1:n.-95T>C | |
| XM_017014452.2:c.-95T>C | XP_016869941.1:n.-95T>C | |
| XM_017014453.1:c.-95T>C | XP_016869942.1:n.-95T>C | |
| XM_017014454.1:c.-95T>C | XP_016869943.1:n.-95T>C | |
| XM_024447451.1:c.362T>C | XP_024303219.1:p.Ile121Thr | |
| NM_000136.3:c.362T>C MANE Select | NP_000127.2:p.Ile121Thr | |
| NM_001243743.2:c.362T>C | NP_001230672.1:p.Ile121Thr | |
| NM_001243744.2:c.362T>C | NP_001230673.1:p.Ile121Thr |