Linked Data
ClinVar Variation Id:
307595
dbSNP Id:
rs144946016
ExAC:
12:124236846 T / C
gnomAD v2:
12-124236846-T-C
gnomAD v3:
12-123752299-T-C
gnomAD v4:
12-123752299-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123752299T>C , CM000674.2:g.123752299T>C | GRCh38 |
| NC_000012.11:g.124236846T>C , CM000674.1:g.124236846T>C | GRCh37 |
| NC_000012.10:g.122802799T>C | NCBI36 |
| NG_012743.1:g.44982T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330342.8:c.2072T>C MANE Select | ENSP00000332247.2:p.Ile691Thr | |
| ENST00000540368.6:n.2103T>C | ||
| ENST00000674794.1:c.2160T>C | ||
| ENST00000675260.1:n.1347T>C | ||
| ENST00000675344.1:c.*1093T>C | ENSP00000501953.1:n.*1093T>C | |
| ENST00000330342.7:c.2072T>C | ENSP00000332247.2:p.Ile691Thr | |
| ENST00000534943.5:c.-89T>C | ENSP00000443726.1:n.-89T>C | |
| NM_012463.3:c.2072T>C | NP_036595.2:p.Ile691Thr | |
| XM_005253563.1:c.1952T>C | XP_005253620.1:p.Ile651Thr | |
| XM_006719317.2:c.1559T>C | XP_006719380.1:p.Ile520Thr | |
| XM_006719318.2:c.1250T>C | XP_006719381.1:p.Ile417Thr | |
| XR_429088.1:n.2235T>C | ||
| XM_024448910.1:c.1952T>C | XP_024304678.1:p.Ile651Thr | |
| XM_024448911.1:c.1559T>C | XP_024304679.1:p.Ile520Thr | |
| XM_024448912.1:c.1250T>C | XP_024304680.1:p.Ile417Thr | |
| NM_012463.4:c.2072T>C MANE Select | NP_036595.2:p.Ile691Thr |