Linked Data
ClinVar Variation Id:
2940700
ClinVar RCV Id:
RCV003800010
dbSNP Id:
rs773151679
ExAC:
7:143027908 T / C
gnomAD v2:
7-143027908-T-C
gnomAD v4:
7-143330815-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143330815T>C , CM000669.2:g.143330815T>C | GRCh38 |
| NC_000007.13:g.143027908T>C , CM000669.1:g.143027908T>C | GRCh37 |
| NC_000007.12:g.142738030T>C | NCBI36 |
| NG_009815.1:g.19690T>C | |
| NG_009815.2:g.19690T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.897T>C | ENSP00000498052.2:p.Val299= | |
| ENST00000343257.7:c.897T>C MANE Select | ENSP00000339867.2:p.Val299= | |
| ENST00000432192.6:c.721T>C | ||
| ENST00000455478.6:c.485T>C | ENSP00000400027.2:n.485T>C | |
| ENST00000650516.1:c.897T>C | ENSP00000498052.1:p.Val299= | |
| ENST00000343257.6:c.897T>C | ENSP00000339867.2:p.Val299= | |
| ENST00000432192.5:c.411T>C | ||
| ENST00000455478.5:c.489T>C | ||
| ENST00000495612.1:n.198T>C | ||
| NM_000083.2:c.897T>C | NP_000074.2:p.Val299= | |
| NR_046453.1:n.987T>C | ||
| XM_011515781.1:c.897T>C | XP_011514083.1:p.Val299= | |
| XM_017011739.1:c.447T>C | XP_016867228.1:p.Val149= | |
| XM_017011740.1:c.447T>C | XP_016867229.1:p.Val149= | |
| NM_000083.3:c.897T>C MANE Select | NP_000074.3:p.Val299= | |
| NR_046453.2:n.1002T>C |