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 |