Linked Data
ClinVar Variation Id:
546887
dbSNP Id:
rs963824682
gnomAD v2:
2-204736158-C-T
gnomAD v3:
2-203871435-C-T
gnomAD v4:
2-203871435-C-T
COSMIC:
COSM1404691
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.203871435C>T , CM000664.2:g.203871435C>T | GRCh38 |
| NC_000002.11:g.204736158C>T , CM000664.1:g.204736158C>T | GRCh37 |
| NC_000002.10:g.204444403C>T | NCBI36 |
| NG_011502.1:g.8650C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696049.1:c.507+8C>T | ENSP00000512353.1:n.507+8C>T | |
| ENST00000696479.1:c.587C>T | ENSP00000512655.1:p.Ser196Leu | |
| ENST00000427473.3:n.491+502C>T | ||
| ENST00000648405.2:c.515C>T MANE Select | ENSP00000497102.1:p.Ser172Leu | |
| ENST00000650075.1:n.539C>T | ||
| ENST00000295854.10:c.457+502C>T | ENSP00000295854.6:n.457+502C>T | |
| ENST00000302823.7:c.515C>T | ENSP00000303939.3:p.Ser172Leu | |
| ENST00000427473.2:c.346+502C>T | ENSP00000409707.2:n.346+502C>T | |
| ENST00000472206.1:c.172+787C>T | ENSP00000417779.1:n.172+787C>T | |
| ENST00000487393.1:n.110-1273C>T | ||
| NM_001037631.2:c.457+502C>T | NP_001032720.1:n.457+502C>T | |
| NM_005214.4:c.515C>T | NP_005205.2:p.Ser172Leu | |
| XR_241294.1:n.655C>T | ||
| NM_001037631.3:c.457+502C>T | NP_001032720.1:n.457+502C>T | |
| NM_005214.5:c.515C>T MANE Select | NP_005205.2:p.Ser172Leu |