Linked Data
ClinVar Variation Id:
39066
ClinVar RCV Id:
RCV000032331
dbSNP Id:
rs281865010
gnomAD v4:
12-101760119-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101760119G>C , CM000674.2:g.101760119G>C | GRCh38 |
| NC_000012.11:g.102153897G>C , CM000674.1:g.102153897G>C | GRCh37 |
| NC_000012.10:g.100678028G>C | NCBI36 |
| NG_021243.1:g.75749C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299314.12:c.3160C>G MANE Select | ENSP00000299314.7:p.Leu1054Val | |
| ENST00000299314.11:c.3160C>G | ENSP00000299314.7:p.Leu1054Val | |
| ENST00000549194.1:n.26C>G | ||
| NM_024312.4:c.3160C>G | NP_077288.2:p.Leu1054Val | |
| XM_006719593.2:c.3160C>G | XP_006719656.1:p.Leu1054Val | |
| XM_011538731.1:c.3079C>G | XP_011537033.1:p.Leu1027Val | |
| XM_006719593.3:c.3160C>G | XP_006719656.1:p.Leu1054Val | |
| XM_011538731.2:c.3079C>G | XP_011537033.1:p.Leu1027Val | |
| XM_017019961.1:c.2944C>G | XP_016875450.1:p.Leu982Val | |
| XM_017019962.2:c.1933C>G | XP_016875451.1:p.Leu645Val | |
| NM_024312.5:c.3160C>G MANE Select | NP_077288.2:p.Leu1054Val |