Linked Data
ClinVar Variation Id:
284534
ClinVar RCV Id:
RCV000307161
RCV001127852
RCV001127854
RCV001711856
RCV002401987
RCV001127853
RCV000864424
dbSNP Id:
rs72648327
ExAC:
17:48272643 G / C
gnomAD v2:
17-48272643-G-C
gnomAD v3:
17-50195282-G-C
gnomAD v4:
17-50195282-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50195282G>C , CM000679.2:g.50195282G>C | GRCh38 |
| NC_000017.10:g.48272643G>C , CM000679.1:g.48272643G>C | GRCh37 |
| NC_000017.9:g.45627642G>C | NCBI36 |
| NG_007400.1:g.11358C>G , LRG_1:g.11358C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.1249C>G MANE Select | ENSP00000225964.6:p.Pro417Ala | |
| ENST00000225964.9:c.1249C>G | ENSP00000225964.5:p.Pro417Ala | |
| ENST00000471344.1:n.193C>G | ||
| NM_000088.3:c.1249C>G , LRG_1t1:c.1249C>G | NP_000079.2:p.Pro417Ala | |
| XM_005257058.3:c.1249C>G | XP_005257115.2:p.Pro417Ala | |
| XM_005257059.3:c.957+1032C>G | XP_005257116.2:n.957+1032C>G | |
| XM_011524341.1:c.1051C>G | XP_011522643.1:p.Pro351Ala | |
| XM_005257058.4:c.1249C>G | XP_005257115.2:p.Pro417Ala | |
| XM_005257059.4:c.957+1032C>G | XP_005257116.2:n.957+1032C>G | |
| NM_000088.4:c.1249C>G MANE Select | NP_000079.2:p.Pro417Ala |