Linked Data
dbSNP Id:
rs368460397
ExAC:
15:41688701 A / G
gnomAD v2:
15-41688701-A-G
gnomAD v3:
15-41396503-A-G
gnomAD v4:
15-41396503-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.41396503A>G , CM000677.2:g.41396503A>G | GRCh38 |
| NC_000015.9:g.41688701A>G , CM000677.1:g.41688701A>G | GRCh37 |
| NC_000015.8:g.39475993A>G | NCBI36 |
| NG_031924.1:g.10958T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260361.9:c.557T>C MANE Select | ENSP00000260361.4:p.Ile186Thr | |
| ENST00000558719.2:c.557T>C | ENSP00000454083.2:p.Ile186Thr | |
| ENST00000560978.2:c.557T>C | ENSP00000453944.2:p.Ile186Thr | |
| ENST00000676533.1:c.557T>C | ENSP00000504040.1:p.Ile186Thr | |
| ENST00000676906.1:c.98T>C | ENSP00000503122.1:p.Ile33Thr | |
| ENST00000677477.1:n.1783T>C | ||
| ENST00000678029.1:c.557T>C | ENSP00000503887.1:p.Ile186Thr | |
| ENST00000678745.1:c.557T>C | ENSP00000503632.1:p.Ile186Thr | |
| ENST00000679094.1:c.557T>C | ENSP00000504295.1:p.Ile186Thr | |
| ENST00000679240.1:n.955T>C | ||
| ENST00000260361.8:c.557T>C | ENSP00000260361.4:p.Ile186Thr | |
| ENST00000558719.1:c.557T>C | ENSP00000454083.1:p.Ile186Thr | |
| ENST00000559127.5:c.557T>C | ENSP00000453027.1:p.Ile186Thr | |
| ENST00000560978.1:c.557T>C | ENSP00000453944.1:p.Ile186Thr | |
| NM_016013.3:c.557T>C | NP_057097.2:p.Ile186Thr | |
| NR_045620.1:n.955T>C | ||
| XM_006720555.1:c.557T>C | XP_006720618.1:p.Ile186Thr | |
| XM_011521658.1:c.557T>C | XP_011519960.1:p.Ile186Thr | |
| XM_011521659.1:c.557T>C | XP_011519961.1:p.Ile186Thr | |
| XM_006720555.3:c.557T>C | XP_006720618.1:p.Ile186Thr | |
| XM_011521659.3:c.557T>C | XP_011519961.1:p.Ile186Thr | |
| XM_024449945.1:c.557T>C | XP_024305713.1:p.Ile186Thr | |
| NM_016013.4:c.557T>C MANE Select | NP_057097.2:p.Ile186Thr | |
| NR_045620.2:n.991T>C |