Linked Data
ClinVar Variation Id:
1176415
dbSNP Id:
rs749059847
ExAC:
2:204736144 T / C
gnomAD v2:
2-204736144-T-C
gnomAD v3:
2-203871421-T-C
gnomAD v4:
2-203871421-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.203871421T>C , CM000664.2:g.203871421T>C | GRCh38 |
| NC_000002.11:g.204736144T>C , CM000664.1:g.204736144T>C | GRCh37 |
| NC_000002.10:g.204444389T>C | NCBI36 |
| NG_011502.1:g.8636T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696049.1:c.501T>C | ENSP00000512353.1:p.Leu167= | |
| ENST00000696479.1:c.573T>C | ENSP00000512655.1:p.Leu191= | |
| ENST00000427473.3:n.491+488T>C | ||
| ENST00000648405.2:c.501T>C MANE Select | ENSP00000497102.1:p.Leu167= | |
| ENST00000650075.1:n.525T>C | ||
| ENST00000295854.10:c.457+488T>C | ENSP00000295854.6:n.457+488T>C | |
| ENST00000302823.7:c.501T>C | ENSP00000303939.3:p.Leu167= | |
| ENST00000427473.2:c.346+488T>C | ENSP00000409707.2:n.346+488T>C | |
| ENST00000472206.1:c.172+773T>C | ENSP00000417779.1:n.172+773T>C | |
| ENST00000487393.1:n.110-1287T>C | ||
| NM_001037631.2:c.457+488T>C | NP_001032720.1:n.457+488T>C | |
| NM_005214.4:c.501T>C | NP_005205.2:p.Leu167= | |
| XR_241294.1:n.641T>C | ||
| NM_001037631.3:c.457+488T>C | NP_001032720.1:n.457+488T>C | |
| NM_005214.5:c.501T>C MANE Select | NP_005205.2:p.Leu167= |