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:
100274
ClinVar RCV Id:
RCV000086670
RCV000250437
RCV000851979
RCV002243724
RCV002264649
RCV002264647
RCV002264648
dbSNP Id:
rs61749367
ExAC:
12:6128898 A / C
gnomAD v2:
12-6128898-A-C
gnomAD v3:
12-6019732-A-C
gnomAD v4:
12-6019732-A-C
ERepo:
CA228433/MONDO:0019565/090
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6019732A>C , CM000674.2:g.6019732A>C | GRCh38 |
| NC_000012.11:g.6128898A>C , CM000674.1:g.6128898A>C | GRCh37 |
| NC_000012.10:g.5999159A>C | NCBI36 |
| NG_009072.1:g.109939T>G | |
| NG_009072.2:g.109939T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.3686T>G MANE Select | ENSP00000261405.5:p.Val1229Gly | |
| ENST00000261405.9:c.3686T>G | ENSP00000261405.5:p.Val1229Gly | |
| ENST00000538635.5:n.421-25798T>G | ||
| ENST00000539641.1:n.484T>G | ||
| NM_000552.3:c.3686T>G | NP_000543.2:p.Val1229Gly | |
| NM_000552.4:c.3686T>G | NP_000543.2:p.Val1229Gly | |
| NM_000552.5:c.3686T>G MANE Select | NP_000543.3:p.Val1229Gly |