Linked Data
ClinVar Variation Id:
475280
dbSNP Id:
rs16840275
ExAC:
2:204732740 G / C
gnomAD v2:
2-204732740-G-C
gnomAD v3:
2-203868017-G-C
gnomAD v4:
2-203868017-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.203868017G>C , CM000664.2:g.203868017G>C | GRCh38 |
| NC_000002.11:g.204732740G>C , CM000664.1:g.204732740G>C | GRCh37 |
| NC_000002.10:g.204440985G>C | NCBI36 |
| NG_011502.1:g.5232G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696049.1:c.75G>C | ENSP00000512353.1:p.Leu25= | |
| ENST00000696479.1:c.147G>C | ENSP00000512655.1:p.Leu49= | |
| ENST00000648405.2:c.75G>C MANE Select | ENSP00000497102.1:p.Leu25= | |
| ENST00000295854.10:c.75G>C | ENSP00000295854.6:p.Leu25= | |
| ENST00000302823.7:c.75G>C | ENSP00000303939.3:p.Leu25= | |
| ENST00000472206.1:c.75G>C | ENSP00000417779.1:p.Leu25= | |
| ENST00000487393.1:n.75G>C | ||
| NM_001037631.2:c.75G>C | NP_001032720.1:p.Leu25= | |
| NM_005214.4:c.75G>C | NP_005205.2:p.Leu25= | |
| XR_241294.1:n.215G>C | ||
| NM_001037631.3:c.75G>C | NP_001032720.1:p.Leu25= | |
| NM_005214.5:c.75G>C MANE Select | NP_005205.2:p.Leu25= |