Linked Data
ClinVar Variation Id:
324968
ClinVar RCV Id:
RCV000875420
dbSNP Id:
rs148502827
ExAC:
17:71196864 G / A
gnomAD v2:
17-71196864-G-A
gnomAD v3:
17-73200725-G-A
gnomAD v4:
17-73200725-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.73200725G>A , CM000679.2:g.73200725G>A | GRCh38 |
| NC_000017.10:g.71196864G>A , CM000679.1:g.71196864G>A | GRCh37 |
| NC_000017.9:g.68708459G>A | NCBI36 |
| NG_008971.1:g.12692G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299886.9:c.1230G>A MANE Select | ENSP00000299886.4:p.Pro410= | |
| ENST00000299886.8:c.1230G>A | ENSP00000299886.4:p.Pro410= | |
| ENST00000438720.7:c.1228G>A | ||
| ENST00000618996.4:c.1230G>A | ENSP00000479450.1:p.Pro410= | |
| NM_018714.2:c.1230G>A | NP_061184.1:p.Pro410= | |
| NM_018714.3:c.1230G>A MANE Select | NP_061184.1:p.Pro410= |