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:
2187031
ClinVar RCV Id:
RCV002623419
dbSNP Id:
rs761405004
ExAC:
17:7125292 G / C
gnomAD v2:
17-7125292-G-C
gnomAD v4:
17-7221973-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7221973G>C , CM000679.2:g.7221973G>C | GRCh38 |
| NC_000017.10:g.7125292G>C , CM000679.1:g.7125292G>C | GRCh37 |
| NC_000017.9:g.7066016G>C | NCBI36 |
| NG_007975.1:g.7140G>C | |
| NG_008391.2:g.3078C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.644G>C MANE Select | ENSP00000349297.5:p.Cys215Ser | |
| ENST00000322910.9:c.*599G>C | ENSP00000325395.5:n.*599G>C | |
| ENST00000350303.9:c.578G>C | ENSP00000344152.5:p.Cys193Ser | |
| ENST00000356839.9:c.644G>C | ENSP00000349297.5:p.Cys215Ser | |
| ENST00000543245.6:c.713G>C | ENSP00000438689.2:p.Cys238Ser | |
| ENST00000577191.5:n.721G>C | ||
| ENST00000577857.5:n.460G>C | ||
| ENST00000579286.5:n.825G>C | ||
| ENST00000580365.1:n.375G>C | ||
| ENST00000581378.5:c.362G>C | ||
| ENST00000581562.5:n.546G>C | ||
| ENST00000582379.1:n.28G>C | ||
| ENST00000583312.5:c.659G>C | ENSP00000467920.1:p.Cys220Ser | |
| ENST00000583760.1:n.426G>C | ||
| NM_000018.3:c.644G>C | NP_000009.1:p.Cys215Ser | |
| NM_001033859.2:c.578G>C | NP_001029031.1:p.Cys193Ser | |
| NM_001270447.1:c.713G>C | NP_001257376.1:p.Cys238Ser | |
| NM_001270448.1:c.416G>C | NP_001257377.1:p.Cys139Ser | |
| XM_006721516.2:c.644G>C | XP_006721579.2:p.Cys215Ser | |
| XM_011523829.1:c.644G>C | XP_011522131.1:p.Cys215Ser | |
| XM_011523830.1:c.644G>C | XP_011522132.1:p.Cys215Ser | |
| XR_934021.1:n.751G>C | ||
| XR_934022.1:n.751G>C | ||
| XR_934023.1:n.751G>C | ||
| XM_006721516.3:c.644G>C | XP_006721579.2:p.Cys215Ser | |
| XM_011523829.2:c.644G>C | XP_011522131.1:p.Cys215Ser | |
| XM_011523830.2:c.644G>C | XP_011522132.1:p.Cys215Ser | |
| XM_024450741.1:c.644G>C | XP_024306509.1:p.Cys215Ser | |
| XR_934021.2:n.703G>C | ||
| XR_934022.2:n.703G>C | ||
| XR_934023.2:n.703G>C | ||
| NM_000018.4:c.644G>C MANE Select | NP_000009.1:p.Cys215Ser | |
| NM_001033859.3:c.578G>C | NP_001029031.1:p.Cys193Ser | |
| NM_001270447.2:c.713G>C | NP_001257376.1:p.Cys238Ser | |
| NM_001270448.2:c.416G>C | NP_001257377.1:p.Cys139Ser |