Linked Data
dbSNP Id:
rs782803599
ExAC:
12:7083592 T / C
gnomAD v2:
12-7083592-T-C
gnomAD v4:
12-6974430-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6974430T>C , CM000674.2:g.6974430T>C | GRCh38 |
| NC_000012.11:g.7083592T>C , CM000674.1:g.7083592T>C | GRCh37 |
| NC_000012.10:g.6953853T>C | NCBI36 |
| NG_021408.1:g.8650T>C | |
| NG_021408.2:g.8650T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000599672.6:c.260T>C MANE Select | ENSP00000470560.1:p.Ile87Thr | |
| ENST00000261406.7:c.242T>C | ENSP00000476966.2:p.Ile81Thr | |
| ENST00000539196.2:c.123T>C | ||
| ENST00000599672.5:c.260T>C | ENSP00000470560.1:p.Ile87Thr | |
| ENST00000607161.5:c.263T>C | ENSP00000480420.1:p.Ile88Thr | |
| ENST00000611981.1:n.271T>C | ||
| ENST00000620255.1:n.249T>C | ||
| NM_006331.7:c.260T>C | NP_006322.4:p.Ile87Thr | |
| XM_011520907.1:c.260T>C | XP_011519209.1:p.Ile87Thr | |
| NM_001320049.1:c.260T>C | NP_001306978.1:p.Ile87Thr | |
| NR_135131.1:n.403T>C | ||
| NM_006331.8:c.260T>C MANE Select | NP_006322.4:p.Ile87Thr | |
| NM_001320049.2:c.260T>C | NP_001306978.1:p.Ile87Thr | |
| NR_135131.2:n.271T>C |