Linked Data
ClinVar Variation Id:
99671
ClinVar RCV Id:
RCV000086077
RCV000180234
RCV000263443
RCV000318574
RCV000987690
RCV002243712
RCV003888489
dbSNP Id:
rs2064317
ExAC:
6:35477032 A / G
gnomAD v2:
6-35477032-A-G
gnomAD v3:
6-35509255-A-G
gnomAD v4:
6-35509255-A-G
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35509255A>G , CM000668.2:g.35509255A>G | GRCh38 |
| NC_000006.11:g.35477032A>G , CM000668.1:g.35477032A>G | GRCh37 |
| NC_000006.10:g.35585010A>G | NCBI36 |
| NG_009077.1:g.8616T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229771.11:c.776T>C MANE Select | ENSP00000229771.6:p.Ile259Thr | |
| ENST00000229771.10:c.776T>C | ENSP00000229771.6:p.Ile259Thr | |
| ENST00000322263.8:c.617T>C | ENSP00000319414.4:p.Ile206Thr | |
| ENST00000373892.4:n.378T>C | ||
| ENST00000614066.4:c.776T>C | ENSP00000477534.1:p.Ile259Thr | |
| NM_001289395.1:c.617T>C | NP_001276324.1:p.Ile206Thr | |
| NM_003322.4:c.776T>C | NP_003313.3:p.Ile259Thr | |
| NM_003322.5:c.776T>C | NP_003313.3:p.Ile259Thr | |
| NM_003322.6:c.776T>C MANE Select | NP_003313.3:p.Ile259Thr | |
| NM_001289395.2:c.617T>C | NP_001276324.1:p.Ile206Thr |