Linked Data
ClinVar Variation Id:
3174907
ClinVar RCV Id:
RCV004474255
dbSNP Id:
rs752512216
ExAC:
7:45141459 C / A
gnomAD v2:
7-45141459-C-A
gnomAD v4:
7-45101860-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.45101860C>A , CM000669.2:g.45101860C>A | GRCh38 |
| NC_000007.13:g.45141459C>A , CM000669.1:g.45141459C>A | GRCh37 |
| NC_000007.12:g.45107984C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258770.8:c.1532G>T MANE Select | ENSP00000258770.3:p.Ser511Ile | |
| ENST00000258770.7:c.1532G>T | ENSP00000258770.3:p.Ser511Ile | |
| ENST00000361278.7:c.1202G>T | ENSP00000354992.3:p.Ser401Ile | |
| ENST00000395655.8:c.1202G>T | ENSP00000379016.4:p.Ser401Ile | |
| ENST00000478116.1:n.555G>T | ||
| ENST00000482482.1:n.436G>T | ||
| ENST00000483615.1:c.675G>T | ||
| ENST00000494076.5:c.1532G>T | ENSP00000420597.1:p.Ser511Ile | |
| ENST00000495973.5:n.2821G>T | ||
| NM_001261834.1:c.1565G>T | NP_001248763.1:p.Ser522Ile | |
| NM_004749.3:c.1532G>T | NP_004740.2:p.Ser511Ile | |
| NM_030900.3:c.1202G>T | NP_112162.1:p.Ser401Ile | |
| NM_199122.2:c.1202G>T | NP_954573.1:p.Ser401Ile | |
| NM_004749.4:c.1532G>T MANE Select | NP_004740.2:p.Ser511Ile | |
| NM_001261834.2:c.1565G>T | NP_001248763.1:p.Ser522Ile | |
| NM_030900.4:c.1202G>T | NP_112162.1:p.Ser401Ile | |
| NM_199122.3:c.1202G>T | NP_954573.1:p.Ser401Ile |