Linked Data
ClinVar Variation Id:
11986
ClinVar RCV Id:
RCV000012766
dbSNP Id:
rs386833549
PubMed:
PMID:11592811
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6554703C>G , CM000671.2:g.6554703C>G | GRCh38 |
| NC_000009.11:g.6554703C>G , CM000671.1:g.6554703C>G | GRCh37 |
| NC_000009.10:g.6544703C>G | NCBI36 |
| NG_016397.1:g.95990G>C , LRG_643:g.95990G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2281G>C MANE Select | ENSP00000370737.4:p.Gly761Arg | |
| ENST00000638233.1:n.716G>C | ||
| ENST00000638661.1:c.481G>C | ENSP00000491369.1:p.Gly161Arg | |
| ENST00000638694.1:n.468G>C | ||
| ENST00000639318.1:c.481G>C | ENSP00000491932.1:p.Gly161Arg | |
| ENST00000639364.1:n.1981G>C | ||
| ENST00000639443.1:n.1849G>C | ||
| ENST00000639639.1:c.-18G>C | ENSP00000491312.1:n.-18G>C | |
| ENST00000639954.1:n.1989G>C | ||
| ENST00000640505.1:n.520G>C | ||
| ENST00000321612.6:c.2281G>C | ENSP00000370737.3:p.Gly761Arg | |
| ENST00000467946.1:n.207G>C | ||
| NM_000170.2:c.2281G>C , LRG_643t1:c.2281G>C | NP_000161.2:p.Gly761Arg | |
| NM_000170.3:c.2281G>C MANE Select | NP_000161.2:p.Gly761Arg |