Linked Data
ClinVar Variation Id:
1084503
ClinVar RCV Id:
RCV001401565
dbSNP Id:
rs2131320240
gnomAD v4:
7-100633115-C-T
MyVariant Identifiers:
chr7:g.100230738C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100633115C>T , CM000669.2:g.100633115C>T | GRCh38 |
| NC_000007.13:g.100230738C>T , CM000669.1:g.100230738C>T | GRCh37 |
| NC_000007.12:g.100068674C>T | NCBI36 |
| NG_007989.1:g.13436G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000223051.8:c.735G>A MANE Select | ENSP00000223051.3:p.Leu245= | |
| ENST00000223051.7:c.735G>A | ENSP00000223051.3:p.Leu245= | |
| ENST00000431692.5:c.735G>A | ENSP00000413905.1:p.Leu245= | |
| ENST00000462107.1:c.735G>A | ENSP00000420525.1:p.Leu245= | |
| ENST00000465294.5:n.740G>A | ||
| ENST00000473374.5:n.185G>A | ||
| ENST00000473571.1:n.189G>A | ||
| ENST00000475011.1:n.264G>A | ||
| ENST00000476304.5:n.356G>A | ||
| NM_001206855.1:c.222G>A | NP_001193784.1:p.Leu74= | |
| NM_003227.3:c.735G>A | NP_003218.2:p.Leu245= | |
| XM_005250553.3:c.735G>A | XP_005250610.1:p.Leu245= | |
| XM_005250554.3:c.735G>A | XP_005250611.1:p.Leu245= | |
| NM_001206855.2:c.222G>A | NP_001193784.1:p.Leu74= | |
| XM_005250553.4:c.735G>A | XP_005250610.1:p.Leu245= | |
| XM_017012573.1:c.735G>A | XP_016868062.1:p.Leu245= | |
| NM_003227.4:c.735G>A MANE Select | NP_003218.2:p.Leu245= | |
| NM_001206855.3:c.222G>A | NP_001193784.1:p.Leu74= |