Linked Data
ClinVar Variation Id:
1534253
ClinVar RCV Id:
RCV002076650
dbSNP Id:
rs55889979
ExAC:
1:17316239 G / A
gnomAD v2:
1-17316239-G-A
gnomAD v3:
1-16989744-G-A
gnomAD v4:
1-16989744-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16989744G>A , CM000663.2:g.16989744G>A | GRCh38 |
| NC_000001.10:g.17316239G>A , CM000663.1:g.17316239G>A | GRCh37 |
| NC_000001.9:g.17188826G>A | NCBI36 |
| NG_009054.1:g.27185C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000326735.13:c.2556C>T MANE Select | ENSP00000327214.8:p.Ala852= | |
| ENST00000326735.12:c.2556C>T | ENSP00000327214.8:p.Ala852= | |
| ENST00000341676.9:c.2424C>T | ENSP00000341115.5:p.Ala808= | |
| ENST00000452699.5:c.2541C>T | ENSP00000413307.1:p.Ala847= | |
| ENST00000466561.1:n.430C>T | ||
| ENST00000502418.1:c.144C>T | ENSP00000423065.1:p.Ala48= | |
| NM_001141973.2:c.2541C>T | NP_001135445.1:p.Ala847= | |
| NM_001141974.2:c.2424C>T | NP_001135446.1:p.Ala808= | |
| NM_022089.3:c.2556C>T | NP_071372.1:p.Ala852= | |
| XM_005245809.1:c.2556C>T | XP_005245866.1:p.Ala852= | |
| XM_005245810.1:c.2553C>T | XP_005245867.1:p.Ala851= | |
| XM_005245811.1:c.2541C>T | XP_005245868.1:p.Ala847= | |
| XM_005245812.1:c.2529C>T | XP_005245869.1:p.Ala843= | |
| XM_005245813.1:c.2496C>T | XP_005245870.1:p.Ala832= | |
| XM_005245815.1:c.2439C>T | XP_005245872.1:p.Ala813= | |
| XM_006710512.1:c.2538C>T | XP_006710575.1:p.Ala846= | |
| XM_006710513.1:c.2514C>T | XP_006710576.1:p.Ala838= | |
| XM_011541128.1:c.2541C>T | XP_011539430.1:p.Ala847= | |
| XM_011541129.1:c.2349C>T | XP_011539431.1:p.Ala783= | |
| XM_017000844.1:c.2541C>T | XP_016856333.1:p.Ala847= | |
| XM_017000845.1:c.2538C>T | XP_016856334.1:p.Ala846= | |
| XM_017000846.1:c.2514C>T | XP_016856335.1:p.Ala838= | |
| XM_017000847.1:c.2511C>T | XP_016856336.1:p.Ala837= | |
| XM_017000848.1:c.2439C>T | XP_016856337.1:p.Ala813= | |
| XM_017000849.1:c.2424C>T | XP_016856338.1:p.Ala808= | |
| XM_017000850.1:c.2349C>T | XP_016856339.1:p.Ala783= | |
| NM_022089.4:c.2556C>T MANE Select | NP_071372.1:p.Ala852= | |
| NM_001141973.3:c.2541C>T | NP_001135445.1:p.Ala847= | |
| NM_001141974.3:c.2424C>T | NP_001135446.1:p.Ala808= |