Linked Data
ClinVar Variation Id:
1804875
ClinVar RCV Id:
RCV002470172
dbSNP Id:
rs780025995
ExAC:
1:98157325 G / A
gnomAD v2:
1-98157325-G-A
gnomAD v3:
1-97691769-G-A
gnomAD v4:
1-97691769-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97691769G>A , CM000663.2:g.97691769G>A | GRCh38 |
| NC_000001.10:g.98157325G>A , CM000663.1:g.98157325G>A | GRCh37 |
| NC_000001.9:g.97929913G>A | NCBI36 |
| NG_008807.2:g.234291C>T , LRG_722:g.234291C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370192.8:c.710C>T MANE Select | ENSP00000359211.3:p.Pro237Leu | |
| ENST00000370192.7:c.710C>T | ENSP00000359211.3:p.Pro237Leu | |
| ENST00000474241.1:n.474C>T | ||
| NM_000110.3:c.710C>T , LRG_722t1:c.710C>T | NP_000101.2:p.Pro237Leu | |
| XM_005270562.3:c.710C>T | XP_005270619.2:p.Pro237Leu | |
| XM_006710397.2:c.710C>T | XP_006710460.1:p.Pro237Leu | |
| XM_006710397.3:c.710C>T | XP_006710460.1:p.Pro237Leu | |
| XM_017000507.1:c.599C>T | XP_016855996.1:p.Pro200Leu | |
| XM_017000508.2:c.215C>T | XP_016855997.1:p.Pro72Leu | |
| XM_017000509.2:c.215C>T | XP_016855998.1:p.Pro72Leu | |
| XM_017000510.1:c.215C>T | XP_016855999.1:p.Pro72Leu | |
| NM_000110.4:c.710C>T MANE Select | NP_000101.2:p.Pro237Leu |