Linked Data
ClinVar Variation Id:
1151832
ClinVar RCV Id:
RCV001492905
dbSNP Id:
rs2102438880
gnomAD v4:
1-209634648-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209634648C>G , CM000663.2:g.209634648C>G | GRCh38 |
| NC_000001.10:g.209807993C>G , CM000663.1:g.209807993C>G | GRCh37 |
| NC_000001.9:g.207874616C>G | NCBI36 |
| NG_007116.1:g.22828G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356082.9:c.373-10G>C MANE Select | ENSP00000348384.3:n.373-10G>C | |
| ENST00000356082.8:c.373-10G>C | ENSP00000348384.3:n.373-10G>C | |
| ENST00000367030.7:c.373-10G>C | ENSP00000355997.3:n.373-10G>C | |
| ENST00000391911.5:c.373-10G>C | ENSP00000375778.1:n.373-10G>C | |
| ENST00000415782.1:c.373-10G>C | ENSP00000388960.1:n.373-10G>C | |
| NM_000228.2:c.373-10G>C | NP_000219.2:n.373-10G>C | |
| NM_001017402.1:c.373-10G>C | NP_001017402.1:n.373-10G>C | |
| NM_001127641.1:c.373-10G>C | NP_001121113.1:n.373-10G>C | |
| XM_005273124.3:c.373-10G>C | XP_005273181.1:n.373-10G>C | |
| XM_005273124.4:c.373-10G>C | XP_005273181.1:n.373-10G>C | |
| XM_017001272.2:c.373-1515G>C | XP_016856761.1:n.373-1515G>C | |
| NM_000228.3:c.373-10G>C MANE Select | NP_000219.2:n.373-10G>C | |
| NM_001017402.2:c.373-10G>C | NP_001017402.1:n.373-10G>C |