Linked Data
ClinVar Variation Id:
410938
dbSNP Id:
rs1060503086
gnomAD v2:
13-48939066-A-C
gnomAD v3:
13-48364930-A-C
gnomAD v4:
13-48364930-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48364930A>C , CM000675.2:g.48364930A>C | GRCh38 |
| NC_000013.10:g.48939066A>C , CM000675.1:g.48939066A>C | GRCh37 |
| NC_000013.9:g.47837067A>C | NCBI36 |
| NG_009009.1:g.66184A>C , LRG_517:g.66184A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.898A>C MANE Select | ENSP00000267163.4:p.Met300Leu | |
| ENST00000650461.1:c.898A>C | ENSP00000497193.1:p.Met300Leu | |
| ENST00000267163.4:c.898A>C | ENSP00000267163.4:p.Met300Leu | |
| NM_000321.2:c.898A>C , LRG_517t1:c.898A>C | NP_000312.2:p.Met300Leu | |
| XM_011535171.1:c.637A>C | XP_011533473.1:p.Met213Leu | |
| XM_011535171.2:c.637A>C | XP_011533473.1:p.Met213Leu | |
| XR_002957522.1:n.168T>G | ||
| NM_000321.3:c.898A>C MANE Select | NP_000312.2:p.Met300Leu |