Linked Data
ClinVar Variation Id:
48400
dbSNP Id:
rs112120466
ExAC:
1:215848696 A / G
gnomAD v2:
1-215848696-A-G
gnomAD v3:
1-215675354-A-G
gnomAD v4:
1-215675354-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215675354A>G , CM000663.2:g.215675354A>G | GRCh38 |
| NC_000001.10:g.215848696A>G , CM000663.1:g.215848696A>G | GRCh37 |
| NC_000001.9:g.213915319A>G | NCBI36 |
| NG_009497.1:g.753043T>C | |
| NG_009497.2:g.753095T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.12557T>C MANE Select | ENSP00000305941.3:p.Ile4186Thr | |
| ENST00000674083.1:c.12557T>C | ENSP00000501296.1:p.Ile4186Thr | |
| ENST00000307340.7:c.12557T>C | ENSP00000305941.3:p.Ile4186Thr | |
| NM_206933.2:c.12557T>C | NP_996816.2:p.Ile4186Thr | |
| NM_206933.3:c.12557T>C | NP_996816.2:p.Ile4186Thr | |
| NM_206933.4:c.12557T>C MANE Select | NP_996816.3:p.Ile4186Thr |