Linked Data
ClinVar Variation Id:
334270
ClinVar RCV Id:
RCV000286072
dbSNP Id:
rs886055612
gnomAD v4:
2-215025774-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.215025774G>C , CM000664.2:g.215025774G>C | GRCh38 |
| NC_000002.11:g.215890498G>C , CM000664.1:g.215890498G>C | GRCh37 |
| NC_000002.10:g.215598743G>C | NCBI36 |
| NG_007074.1:g.117654C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272895.12:c.1186C>G MANE Select | ENSP00000272895.7:p.Leu396Val | |
| ENST00000272895.11:c.1186C>G | ENSP00000272895.7:p.Leu396Val | |
| ENST00000389661.4:c.232C>G | ENSP00000374312.4:p.Leu78Val | |
| NM_015657.3:c.232C>G | NP_056472.2:p.Leu78Val | |
| NM_173076.2:c.1186C>G | NP_775099.2:p.Leu396Val | |
| NR_103740.1:n.1430C>G | ||
| XM_011510951.1:c.1186C>G | XP_011509253.1:p.Leu396Val | |
| XM_011510952.1:c.1186C>G | XP_011509254.1:p.Leu396Val | |
| XM_011510951.2:c.1186C>G | XP_011509253.1:p.Leu396Val | |
| NM_173076.3:c.1186C>G MANE Select | NP_775099.2:p.Leu396Val | |
| NR_103740.2:n.1628C>G | ||
| NM_015657.4:c.232C>G | NP_056472.2:p.Leu78Val |