Linked Data
ClinVar Variation Id:
2797590
ClinVar RCV Id:
RCV003673297
dbSNP Id:
rs781539138
ExAC:
1:215953345 G / T
gnomAD v2:
1-215953345-G-T
gnomAD v3:
1-215780003-G-T
gnomAD v4:
1-215780003-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215780003G>T , CM000663.2:g.215780003G>T | GRCh38 |
| NC_000001.10:g.215953345G>T , CM000663.1:g.215953345G>T | GRCh37 |
| NC_000001.9:g.214019968G>T | NCBI36 |
| NG_009497.1:g.648394C>A | |
| NG_009497.2:g.648446C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.10779C>A MANE Select | ENSP00000305941.3:p.Ile3593= | |
| ENST00000674083.1:c.10779C>A | ENSP00000501296.1:p.Ile3593= | |
| ENST00000307340.7:c.10779C>A | ENSP00000305941.3:p.Ile3593= | |
| NM_206933.2:c.10779C>A | NP_996816.2:p.Ile3593= | |
| NM_206933.3:c.10779C>A | NP_996816.2:p.Ile3593= | |
| NM_206933.4:c.10779C>A MANE Select | NP_996816.3:p.Ile3593= |