Linked Data
dbSNP Id:
rs763495993
ExAC:
1:24123034 T / G
gnomAD v2:
1-24123034-T-G
gnomAD v4:
1-23796544-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23796544T>G , CM000663.2:g.23796544T>G | GRCh38 |
| NC_000001.10:g.24123034T>G , CM000663.1:g.24123034T>G | GRCh37 |
| NC_000001.9:g.23995621T>G | NCBI36 |
| NG_007068.1:g.9261A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617979.5:c.838A>C MANE Select | ENSP00000483375.1:p.Met280Leu | |
| ENST00000374497.7:c.838A>C | ENSP00000363621.3:p.Met280Leu | |
| ENST00000418277.5:c.646A>C | ENSP00000414719.1:p.Met216Leu | |
| ENST00000429356.5:c.603+153A>C | ENSP00000398585.1:n.603+153A>C | |
| ENST00000456977.5:c.153+153A>C | ENSP00000397045.1:n.153+153A>C | |
| ENST00000459934.5:n.1066A>C | ||
| ENST00000469556.1:n.342A>C | ||
| ENST00000481736.5:n.1242A>C | ||
| ENST00000617979.4:c.838A>C | ENSP00000483375.1:p.Met280Leu | |
| NM_000403.3:c.838A>C | NP_000394.2:p.Met280Leu | |
| NM_001008216.1:c.838A>C | NP_001008217.1:p.Met280Leu | |
| NM_001127621.1:c.838A>C | NP_001121093.1:p.Met280Leu | |
| NM_001008216.2:c.838A>C MANE Select | NP_001008217.1:p.Met280Leu | |
| NM_000403.4:c.838A>C | NP_000394.2:p.Met280Leu | |
| NM_001127621.2:c.838A>C | NP_001121093.1:p.Met280Leu |