Linked Data
dbSNP Id:
rs750446717
ExAC:
12:89744556 A / G
gnomAD v2:
12-89744556-A-G
gnomAD v4:
12-89350779-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.89350779A>G , CM000674.2:g.89350779A>G | GRCh38 |
| NC_000012.11:g.89744556A>G , CM000674.1:g.89744556A>G | GRCh37 |
| NC_000012.10:g.88268687A>G | NCBI36 |
| NG_033915.1:g.7081T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000279488.8:c.647T>C MANE Select | ENSP00000279488.6:p.Leu216Ser | |
| ENST00000279488.7:c.647T>C | ENSP00000279488.6:p.Leu216Ser | |
| ENST00000308385.6:c.400+861T>C | ENSP00000307835.6:n.400+861T>C | |
| ENST00000547140.1:n.333T>C | ||
| ENST00000547291.1:c.272T>C | ENSP00000449838.1:p.Leu91Ser | |
| NM_001946.3:c.647T>C | NP_001937.2:p.Leu216Ser | |
| NM_022652.3:c.400+861T>C | NP_073143.2:n.400+861T>C | |
| NM_001946.4:c.647T>C MANE Select | NP_001937.2:p.Leu216Ser | |
| NM_022652.4:c.400+861T>C | NP_073143.2:n.400+861T>C |