Linked Data
ClinVar Variation Id:
1101214
ClinVar RCV Id:
RCV001424065
dbSNP Id:
rs899939755
MyVariant Identifiers:
chr7:g.150655343C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150958255C>G , CM000669.2:g.150958255C>G | GRCh38 |
| NC_000007.13:g.150655343C>G , CM000669.1:g.150655343C>G | GRCh37 |
| NC_000007.12:g.150286276C>G | NCBI36 |
| NG_008916.1:g.24672G>C , LRG_288:g.24672G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1553G>C | ||
| ENST00000262186.10:c.720G>C MANE Select | ENSP00000262186.5:p.Pro240= | |
| ENST00000262186.9:c.720G>C | ENSP00000262186.5:p.Pro240= | |
| ENST00000430723.4:c.372G>C | ENSP00000387657.4:p.Pro124= | |
| ENST00000532957.5:n.943G>C | ||
| NM_000238.3:c.720G>C , LRG_288t1:c.720G>C | NP_000229.1:p.Pro240= | |
| NM_172056.2:c.720G>C , LRG_288t2:c.720G>C | NP_742053.1:p.Pro240= | |
| XM_011516185.1:c.420G>C | XP_011514487.1:p.Pro140= | |
| XM_011516186.1:c.720G>C | XP_011514488.1:p.Pro240= | |
| XM_011516185.2:c.420G>C | XP_011514487.1:p.Pro140= | |
| XM_011516186.3:c.720G>C | XP_011514488.1:p.Pro240= | |
| XM_017012195.1:c.570G>C | XP_016867684.1:p.Pro190= | |
| XM_017012196.1:c.543G>C | XP_016867685.1:p.Pro181= | |
| NM_000238.4:c.720G>C MANE Select | NP_000229.1:p.Pro240= |