Linked Data
ClinVar Variation Id:
2844
ClinVar RCV Id:
RCV000002978
dbSNP Id:
rs120074146
ExAC:
11:108013272 T / C
gnomAD v2:
11-108013272-T-C
gnomAD v3:
11-108142545-T-C
gnomAD v4:
11-108142545-T-C
PubMed:
PMID:9744475
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108142545T>C , CM000673.2:g.108142545T>C | GRCh38 |
| NC_000011.9:g.108013272T>C , CM000673.1:g.108013272T>C | GRCh37 |
| NC_000011.8:g.107518482T>C | NCBI36 |
| NG_009888.1:g.26015T>C | |
| NG_009888.2:g.30841T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265838.9:c.935T>C MANE Select | ENSP00000265838.4:p.Ile312Thr | |
| ENST00000671707.1:n.1030T>C | ||
| ENST00000672031.1:c.935T>C | ENSP00000500463.1:p.Ile312Thr | |
| ENST00000672284.1:c.665T>C | ENSP00000500444.1:p.Ile222Thr | |
| ENST00000672354.1:c.935T>C | ENSP00000500490.1:p.Ile312Thr | |
| ENST00000672367.1:c.572T>C | ENSP00000500209.1:p.Ile191Thr | |
| ENST00000672580.1:c.*190T>C | ENSP00000500366.1:n.*190T>C | |
| ENST00000672907.1:c.620T>C | ENSP00000500928.1:p.Ile207Thr | |
| ENST00000673000.1:n.1023T>C | ||
| ENST00000673531.1:c.665T>C | ENSP00000500163.1:p.Ile222Thr | |
| ENST00000265838.8:c.935T>C | ENSP00000265838.4:p.Ile312Thr | |
| ENST00000531813.5:c.*408T>C | ENSP00000435965.1:n.*408T>C | |
| ENST00000532792.5:n.430T>C | ||
| ENST00000533610.1:n.396T>C | ||
| NM_000019.3:c.935T>C | NP_000010.1:p.Ile312Thr | |
| XM_006718834.2:c.665T>C | XP_006718897.1:p.Ile222Thr | |
| XM_006718835.2:c.665T>C | XP_006718898.1:p.Ile222Thr | |
| XM_006718835.3:c.665T>C | XP_006718898.1:p.Ile222Thr | |
| XM_017017681.1:c.665T>C | XP_016873170.1:p.Ile222Thr | |
| XM_017017682.2:c.557T>C | XP_016873171.1:p.Ile186Thr | |
| XM_017017683.2:c.557T>C | XP_016873172.1:p.Ile186Thr | |
| XM_024448511.1:c.665T>C | XP_024304279.1:p.Ile222Thr | |
| XM_024448512.1:c.665T>C | XP_024304280.1:p.Ile222Thr | |
| XM_024448513.1:c.665T>C | XP_024304281.1:p.Ile222Thr | |
| XM_024448514.1:c.665T>C | XP_024304282.1:p.Ile222Thr | |
| XM_024448515.1:c.665T>C | XP_024304283.1:p.Ile222Thr | |
| NM_000019.4:c.935T>C MANE Select | NP_000010.1:p.Ile312Thr | |
| NM_001386677.1:c.935T>C | NP_001373606.1:p.Ile312Thr | |
| NM_001386678.1:c.620T>C | NP_001373607.1:p.Ile207Thr | |
| NM_001386679.1:c.638T>C | NP_001373608.1:p.Ile213Thr | |
| NM_001386681.1:c.665T>C | NP_001373610.1:p.Ile222Thr | |
| NM_001386682.1:c.665T>C | NP_001373611.1:p.Ile222Thr | |
| NM_001386685.1:c.665T>C | NP_001373614.1:p.Ile222Thr | |
| NM_001386686.1:c.665T>C | NP_001373615.1:p.Ile222Thr | |
| NM_001386687.1:c.665T>C | NP_001373616.1:p.Ile222Thr | |
| NM_001386688.1:c.665T>C | NP_001373617.1:p.Ile222Thr | |
| NM_001386689.1:c.665T>C | NP_001373618.1:p.Ile222Thr | |
| NM_001386690.1:c.665T>C | NP_001373619.1:p.Ile222Thr | |
| NM_001386691.1:c.665T>C | NP_001373620.1:p.Ile222Thr | |
| NR_170162.1:n.975T>C | ||
| NR_170163.1:n.968T>C |