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:
42998
ClinVar RCV Id:
RCV000035892
RCV001112580
RCV001112578
RCV001180868
RCV001481796
RCV002326726
RCV003320074
dbSNP Id:
rs148788346
ExAC:
14:23886838 G / C
gnomAD v2:
14-23886838-G-C
gnomAD v4:
14-23417629-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23417629G>C , CM000676.2:g.23417629G>C | GRCh38 |
| NC_000014.8:g.23886838G>C , CM000676.1:g.23886838G>C | GRCh37 |
| NC_000014.7:g.22956678G>C | NCBI36 |
| NG_007884.1:g.23033C>G , LRG_384:g.23033C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.4227C>G MANE Select | ENSP00000347507.3:p.Ala1409= | |
| ENST00000355349.3:c.4227C>G | ENSP00000347507.3:p.Ala1409= | |
| NM_000257.3:c.4227C>G | NP_000248.2:p.Ala1409= | |
| XM_017021340.1:c.4227C>G | XP_016876829.1:p.Ala1409= | |
| NM_000257.4:c.4227C>G MANE Select | NP_000248.2:p.Ala1409= |