Linked Data
ClinVar Variation Id:
1561147
ClinVar RCV Id:
RCV002211613
dbSNP Id:
rs2131320756
MyVariant Identifiers:
chr7:g.100231053C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100633430C>G , CM000669.2:g.100633430C>G | GRCh38 |
| NC_000007.13:g.100231053C>G , CM000669.1:g.100231053C>G | GRCh37 |
| NC_000007.12:g.100068989C>G | NCBI36 |
| NG_007989.1:g.13121G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223051.8:c.600G>C MANE Select | ENSP00000223051.3:p.Leu200= | |
| ENST00000223051.7:c.600G>C | ENSP00000223051.3:p.Leu200= | |
| ENST00000431692.5:c.600G>C | ENSP00000413905.1:p.Leu200= | |
| ENST00000462107.1:c.600G>C | ENSP00000420525.1:p.Leu200= | |
| ENST00000465294.5:n.605G>C | ||
| ENST00000475011.1:n.129G>C | ||
| ENST00000476304.5:n.221G>C | ||
| NM_001206855.1:c.87G>C | NP_001193784.1:p.Leu29= | |
| NM_003227.3:c.600G>C | NP_003218.2:p.Leu200= | |
| XM_005250553.3:c.600G>C | XP_005250610.1:p.Leu200= | |
| XM_005250554.3:c.600G>C | XP_005250611.1:p.Leu200= | |
| NM_001206855.2:c.87G>C | NP_001193784.1:p.Leu29= | |
| XM_005250553.4:c.600G>C | XP_005250610.1:p.Leu200= | |
| XM_017012573.1:c.600G>C | XP_016868062.1:p.Leu200= | |
| NM_003227.4:c.600G>C MANE Select | NP_003218.2:p.Leu200= | |
| NM_001206855.3:c.87G>C | NP_001193784.1:p.Leu29= |