Linked Data
ClinVar Variation Id:
2095232
ClinVar RCV Id:
RCV003025689
dbSNP Id:
rs1455078510
gnomAD v2:
2-241808303-G-C
gnomAD v4:
2-240868886-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868886G>C , CM000664.2:g.240868886G>C | GRCh38 |
| NC_000002.11:g.241808303G>C , CM000664.1:g.241808303G>C | GRCh37 |
| NC_000002.10:g.241456976G>C | NCBI36 |
| NG_008005.1:g.5142G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.21G>C MANE Select | ENSP00000302620.3:p.Leu7= | |
| ENST00000307503.3:c.21G>C | ENSP00000302620.3:p.Leu7= | |
| ENST00000472436.1:n.41G>C | ||
| NM_000030.2:c.21G>C | NP_000021.1:p.Leu7= | |
| XR_924060.1:n.405+1347C>G | ||
| NM_000030.3:c.21G>C MANE Select | NP_000021.1:p.Leu7= |