Linked Data
ClinVar Variation Id:
719426
ClinVar RCV Id:
RCV002065585
dbSNP Id:
rs200657280
ExAC:
2:204736111 G / A
gnomAD v2:
2-204736111-G-A
gnomAD v3:
2-203871388-G-A
gnomAD v4:
2-203871388-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.203871388G>A , CM000664.2:g.203871388G>A | GRCh38 |
| NC_000002.11:g.204736111G>A , CM000664.1:g.204736111G>A | GRCh37 |
| NC_000002.10:g.204444356G>A | NCBI36 |
| NG_011502.1:g.8603G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696049.1:c.468G>A | ENSP00000512353.1:p.Pro156= | |
| ENST00000696479.1:c.540G>A | ENSP00000512655.1:p.Pro180= | |
| ENST00000427473.3:n.491+455G>A | ||
| ENST00000648405.2:c.468G>A MANE Select | ENSP00000497102.1:p.Pro156= | |
| ENST00000650075.1:n.492G>A | ||
| ENST00000295854.10:c.457+455G>A | ENSP00000295854.6:n.457+455G>A | |
| ENST00000302823.7:c.468G>A | ENSP00000303939.3:p.Pro156= | |
| ENST00000427473.2:c.346+455G>A | ENSP00000409707.2:n.346+455G>A | |
| ENST00000472206.1:c.172+740G>A | ENSP00000417779.1:n.172+740G>A | |
| ENST00000487393.1:n.110-1320G>A | ||
| NM_001037631.2:c.457+455G>A | NP_001032720.1:n.457+455G>A | |
| NM_005214.4:c.468G>A | NP_005205.2:p.Pro156= | |
| XR_241294.1:n.608G>A | ||
| NM_001037631.3:c.457+455G>A | NP_001032720.1:n.457+455G>A | |
| NM_005214.5:c.468G>A MANE Select | NP_005205.2:p.Pro156= |