SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.
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.
This migration is underway but taking longer than originally estimated.
Linked Data
ClinVar Variation Id:
2983527
ClinVar RCV Id:
RCV003848142
dbSNP Id:
rs771117714
ExAC:
17:7127497 T / C
gnomAD v2:
17-7127497-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224178T>C , CM000679.2:g.7224178T>C | GRCh38 |
| NC_000017.10:g.7127497T>C , CM000679.1:g.7127497T>C | GRCh37 |
| NC_000017.9:g.7068221T>C | NCBI36 |
| NG_007975.1:g.9345T>C | |
| NG_008391.2:g.873A>G | |
| NG_033038.1:g.15367A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1467T>C MANE Select | ENSP00000349297.5:p.Ser489= | |
| ENST00000322910.9:c.*1422T>C | ENSP00000325395.5:n.*1422T>C | |
| ENST00000350303.9:c.1401T>C | ENSP00000344152.5:p.Ser467= | |
| ENST00000356839.9:c.1467T>C | ENSP00000349297.5:p.Ser489= | |
| ENST00000542255.6:c.325T>C | ||
| ENST00000543245.6:c.1536T>C | ENSP00000438689.2:p.Ser512= | |
| ENST00000578711.1:n.674T>C | ||
| ENST00000579391.1:n.75T>C | ||
| ENST00000579425.5:n.583T>C | ||
| ENST00000579546.1:c.271+109T>C | ||
| ENST00000579894.5:n.254T>C | ||
| ENST00000583074.5:n.153+109T>C | ||
| ENST00000583850.5:n.242T>C | ||
| ENST00000583858.5:c.463+109T>C | ||
| ENST00000585203.6:n.658T>C | ||
| NM_000018.3:c.1467T>C | NP_000009.1:p.Ser489= | |
| NM_001033859.2:c.1401T>C | NP_001029031.1:p.Ser467= | |
| NM_001270447.1:c.1536T>C | NP_001257376.1:p.Ser512= | |
| NM_001270448.1:c.1239T>C | NP_001257377.1:p.Ser413= | |
| XM_006721516.2:c.1467T>C | XP_006721579.2:p.Ser489= | |
| XM_011523829.1:c.1434+109T>C | XP_011522131.1:n.1434+109T>C | |
| XM_011523830.1:c.1434+109T>C | XP_011522132.1:n.1434+109T>C | |
| XR_934021.1:n.1574T>C | ||
| XR_934022.1:n.1541+109T>C | ||
| XR_934023.1:n.1541+109T>C | ||
| XM_006721516.3:c.1467T>C | XP_006721579.2:p.Ser489= | |
| XM_011523829.2:c.1434+109T>C | XP_011522131.1:n.1434+109T>C | |
| XM_011523830.2:c.1434+109T>C | XP_011522132.1:n.1434+109T>C | |
| XM_024450741.1:c.1434+109T>C | XP_024306509.1:n.1434+109T>C | |
| XR_934021.2:n.1526T>C | ||
| XR_934022.2:n.1493+109T>C | ||
| XR_934023.2:n.1493+109T>C | ||
| NM_000018.4:c.1467T>C MANE Select | NP_000009.1:p.Ser489= | |
| NM_001033859.3:c.1401T>C | NP_001029031.1:p.Ser467= | |
| NM_001270447.2:c.1536T>C | NP_001257376.1:p.Ser512= | |
| NM_001270448.2:c.1239T>C | NP_001257377.1:p.Ser413= |