Linked Data
dbSNP Id:
rs771550869
ExAC:
19:4816306 A / G
gnomAD v2:
19-4816306-A-G
gnomAD v4:
19-4816294-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816294A>G , CM000681.2:g.4816294A>G | GRCh38 |
| NC_000019.9:g.4816306A>G , CM000681.1:g.4816306A>G | GRCh37 |
| NC_000019.8:g.4767306A>G | NCBI36 |
| NG_031998.1:g.20449T>C , LRG_358:g.20449T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.2084T>C MANE Select | ENSP00000248244.4:p.Met695Thr | |
| ENST00000248244.5:c.2084T>C | ENSP00000248244.4:p.Met695Thr | |
| ENST00000621756.1:c.1586T>C | ENSP00000479467.1:p.Met529Thr | |
| NM_182919.3:c.2084T>C , LRG_358t1:c.2084T>C | NP_891549.1:p.Met695Thr | |
| NM_001385678.1:c.2042T>C | NP_001372607.1:p.Met681Thr | |
| NM_001385679.1:c.1949T>C | NP_001372608.1:p.Met650Thr | |
| NM_001385680.1:c.1442T>C | NP_001372609.1:p.Met481Thr | |
| NM_182919.4:c.2084T>C MANE Select | NP_891549.1:p.Met695Thr |