Linked Data
ClinVar Variation Id:
2162563
ClinVar RCV Id:
RCV003070307
dbSNP Id:
rs766987475
gnomAD v4:
12-123744242-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123744242A>C , CM000674.2:g.123744242A>C | GRCh38 |
| NC_000012.11:g.124228789A>C , CM000674.1:g.124228789A>C | GRCh37 |
| NC_000012.10:g.122794742A>C | NCBI36 |
| NG_012743.1:g.36925A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330342.8:c.1231A>C MANE Select | ENSP00000332247.2:p.Met411Leu | |
| ENST00000540368.6:n.1262A>C | ||
| ENST00000674794.1:c.1319A>C | ||
| ENST00000675260.1:n.506A>C | ||
| ENST00000675344.1:c.*252A>C | ENSP00000501953.1:n.*252A>C | |
| ENST00000330342.7:c.1231A>C | ENSP00000332247.2:p.Met411Leu | |
| ENST00000504192.2:c.841A>C | ENSP00000443441.1:p.Met281Leu | |
| ENST00000536426.1:n.248A>C | ||
| ENST00000545059.5:n.3867A>C | ||
| NM_012463.3:c.1231A>C | NP_036595.2:p.Met411Leu | |
| XM_005253563.1:c.1231A>C | XP_005253620.1:p.Met411Leu | |
| XM_006719317.2:c.718A>C | XP_006719380.1:p.Met240Leu | |
| XM_006719318.2:c.409A>C | XP_006719381.1:p.Met137Leu | |
| XR_429088.1:n.1394A>C | ||
| XM_024448910.1:c.1231A>C | XP_024304678.1:p.Met411Leu | |
| XM_024448911.1:c.718A>C | XP_024304679.1:p.Met240Leu | |
| XM_024448912.1:c.409A>C | XP_024304680.1:p.Met137Leu | |
| NM_012463.4:c.1231A>C MANE Select | NP_036595.2:p.Met411Leu |