Linked Data
ClinVar Variation Id:
2049623
dbSNP Id:
rs377287303
ExAC:
7:100231130 G / C
gnomAD v2:
7-100231130-G-C
gnomAD v3:
7-100633507-G-C
gnomAD v4:
7-100633507-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100633507G>C , CM000669.2:g.100633507G>C | GRCh38 |
| NC_000007.13:g.100231130G>C , CM000669.1:g.100231130G>C | GRCh37 |
| NC_000007.12:g.100069066G>C | NCBI36 |
| NG_007989.1:g.13044C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223051.8:c.523C>G MANE Select | ENSP00000223051.3:p.Leu175Val | |
| ENST00000223051.7:c.523C>G | ENSP00000223051.3:p.Leu175Val | |
| ENST00000431692.5:c.523C>G | ENSP00000413905.1:p.Leu175Val | |
| ENST00000462107.1:c.523C>G | ENSP00000420525.1:p.Leu175Val | |
| ENST00000465294.5:n.528C>G | ||
| ENST00000475011.1:n.52C>G | ||
| ENST00000476304.5:n.144C>G | ||
| NM_001206855.1:c.10C>G | NP_001193784.1:p.Leu4Val | |
| NM_003227.3:c.523C>G | NP_003218.2:p.Leu175Val | |
| XM_005250553.3:c.523C>G | XP_005250610.1:p.Leu175Val | |
| XM_005250554.3:c.523C>G | XP_005250611.1:p.Leu175Val | |
| NM_001206855.2:c.10C>G | NP_001193784.1:p.Leu4Val | |
| XM_005250553.4:c.523C>G | XP_005250610.1:p.Leu175Val | |
| XM_017012573.1:c.523C>G | XP_016868062.1:p.Leu175Val | |
| NM_003227.4:c.523C>G MANE Select | NP_003218.2:p.Leu175Val | |
| NM_001206855.3:c.10C>G | NP_001193784.1:p.Leu4Val |