Linked Data
ClinVar Variation Id:
134102
ClinVar RCV Id:
RCV000120774
RCV000255243
RCV000761018
RCV000990227
RCV000778547
RCV001329855
RCV003114266
RCV002515854
RCV003467078
dbSNP Id:
rs144564120
ExAC:
19:45855507 G / C
gnomAD v2:
19-45855507-G-C
gnomAD v3:
19-45352249-G-C
gnomAD v4:
19-45352249-G-C
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45352249G>C , CM000681.2:g.45352249G>C | GRCh38 |
| NC_000019.9:g.45855507G>C , CM000681.1:g.45855507G>C | GRCh37 |
| NC_000019.8:g.50547347G>C | NCBI36 |
| NG_007067.2:g.23339C>G , LRG_461:g.23339C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.2150C>G | ENSP00000375808.4:p.Ala717Gly | |
| ENST00000682414.1:c.2150C>G | ENSP00000507019.1:p.Ala717Gly | |
| ENST00000682508.1:n.2179C>G | ||
| ENST00000684218.1:c.*1408C>G | ENSP00000507804.1:n.*1408C>G | |
| ENST00000684264.1:n.1706C>G | ||
| ENST00000684407.1:c.2027C>G | ENSP00000507775.1:p.Ala676Gly | |
| ENST00000684458.1:c.*636C>G | ENSP00000508260.1:n.*636C>G | |
| ENST00000684468.1:n.1862C>G | ||
| ENST00000391945.10:c.2150C>G MANE Select | ENSP00000375809.4:p.Ala717Gly | |
| ENST00000646507.1:n.2247C>G | ||
| ENST00000391941.6:c.2078C>G | ENSP00000375805.2:p.Ala693Gly | |
| ENST00000391942.6:n.1321C>G | ||
| ENST00000391944.7:c.1916C>G | ENSP00000375808.3:p.Ala639Gly | |
| ENST00000391945.8:c.2150C>G | ENSP00000375809.3:p.Ala717Gly | |
| ENST00000588652.5:n.2238C>G | ||
| NM_000400.3:c.2150C>G , LRG_461t1:c.2150C>G | NP_000391.1:p.Ala717Gly | |
| XM_011526611.1:c.2072C>G | XP_011524913.1:p.Ala691Gly | |
| XM_011526611.2:c.2072C>G | XP_011524913.1:p.Ala691Gly | |
| XM_017026467.1:c.2027C>G | XP_016881956.1:p.Ala676Gly | |
| XR_001753633.2:n.2197C>G | ||
| XR_001753634.2:n.2133C>G | ||
| NM_000400.4:c.2150C>G MANE Select | NP_000391.1:p.Ala717Gly |