SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Linked Data
ClinVar Variation Id:
40660
ClinVar RCV Id:
RCV000038569
RCV000157705
RCV000228572
RCV001261072
RCV001813282
RCV002390135
RCV003944869
dbSNP Id:
rs139290271
ExAC:
2:39278400 A / G
gnomAD v2:
2-39278400-A-G
gnomAD v3:
2-39051259-A-G
gnomAD v4:
2-39051259-A-G
ERepo:
CA136183/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39051259A>G , CM000664.2:g.39051259A>G | GRCh38 |
| NC_000002.11:g.39278400A>G , CM000664.1:g.39278400A>G | GRCh37 |
| NC_000002.10:g.39131904A>G | NCBI36 |
| NG_007530.1:g.74205T>C , LRG_754:g.74205T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461545.2:n.776T>C | ||
| ENST00000472480.2:n.629T>C | ||
| ENST00000685782.1:n.1587T>C | ||
| ENST00000689668.1:n.756T>C | ||
| ENST00000690679.1:c.849T>C | ||
| ENST00000690876.1:c.749T>C | ENSP00000508955.1:p.Val250Ala | |
| ENST00000691229.1:c.749T>C | ENSP00000510437.1:p.Val250Ala | |
| ENST00000692089.1:c.749T>C | ENSP00000508626.1:p.Val250Ala | |
| ENST00000402219.8:c.749T>C MANE Select | ENSP00000384675.2:p.Val250Ala | |
| ENST00000395038.6:c.749T>C | ENSP00000378479.2:p.Val250Ala | |
| ENST00000402219.6:c.749T>C | ENSP00000384675.2:p.Val250Ala | |
| ENST00000426016.5:c.749T>C | ENSP00000387784.1:p.Val250Ala | |
| ENST00000461545.1:n.99T>C | ||
| NM_005633.3:c.749T>C , LRG_754t1:c.749T>C | NP_005624.2:p.Val250Ala | |
| XM_005264515.3:c.749T>C | XP_005264572.1:p.Val250Ala | |
| XM_011533060.1:c.842T>C | XP_011531362.1:p.Val281Ala | |
| XM_011533061.1:c.842T>C | XP_011531363.1:p.Val281Ala | |
| XM_011533062.1:c.728T>C | XP_011531364.1:p.Val243Ala | |
| XM_011533063.1:c.725T>C | XP_011531365.1:p.Val242Ala | |
| XM_011533064.1:c.578T>C | XP_011531366.1:p.Val193Ala | |
| XM_011533065.1:c.842T>C | XP_011531367.1:p.Val281Ala | |
| XM_005264515.4:c.749T>C | XP_005264572.1:p.Val250Ala | |
| XM_011533062.2:c.728T>C | XP_011531364.1:p.Val243Ala | |
| XM_011533064.2:c.578T>C | XP_011531366.1:p.Val193Ala | |
| NM_001382394.1:c.728T>C | NP_001369323.1:p.Val243Ala | |
| NM_001382395.1:c.749T>C | NP_001369324.1:p.Val250Ala | |
| NM_005633.4:c.749T>C MANE Select | NP_005624.2:p.Val250Ala |