Linked Data
ClinVar Variation Id:
163550
dbSNP Id:
rs371291716
ExAC:
X:100662899 G / C
gnomAD v2:
X-100662899-G-C
gnomAD v3:
X-101407911-G-C
gnomAD v4:
X-101407911-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101407911G>C , CM000685.2:g.101407911G>C | GRCh38 |
| NC_000023.10:g.100662899G>C , CM000685.1:g.100662899G>C | GRCh37 |
| NC_000023.9:g.100549555G>C | NCBI36 |
| NG_007119.1:g.5053C>G , LRG_672:g.5053C>G | |
| NG_016327.1:g.4709G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486121.7:c.-8C>G (GLA) | ENSP00000501124.2:n.-8C>G | |
| ENST00000674127.2:c.-8C>G (GLA) | ENSP00000501044.2:n.-8C>G | |
| ENST00000710365.1:c.-8C>G (GLA) | ENSP00000518234.1:n.-8C>G | |
| ENST00000218516.4:c.-8C>G (GLA) MANE Select | ENSP00000218516.4:n.-8C>G | |
| ENST00000468823.2:n.54C>G (GLA) | ||
| ENST00000480513.6:c.-8C>G (GLA) | ENSP00000497055.1:n.-8C>G | |
| ENST00000649178.1:c.-8C>G (GLA) | ENSP00000498186.1:n.-8C>G | |
| ENST00000674142.1:n.80C>G (GLA) | ||
| ENST00000675799.1:c.-8C>G (GLA) | ENSP00000502661.1:n.-8C>G | |
| ENST00000675968.1:n.54C>G (GLA) | ||
| ENST00000218516.3:c.-8C>G (GLA) | ENSP00000218516.3:n.-8C>G | |
| ENST00000409170.3:c.301-4025G>C (RPL36A-HNRNPH2) | ENSP00000386655.4:n.301-4025G>C | |
| ENST00000409338.5:c.178-4025G>C (RPL36A-HNRNPH2) | ENSP00000386974.2:n.178-4025G>C | |
| NM_000169.2:c.-8C>G , LRG_672t1:c.-8C>G (GLA) | NP_000160.1:n.-8C>G | |
| NM_001199973.1:c.409-4025G>C (RPL36A-HNRNPH2) | NP_001186902.1:n.409-4025G>C | |
| NM_001199974.1:c.286-4025G>C (RPL36A-HNRNPH2) | NP_001186903.1:n.286-4025G>C | |
| XR_938397.1:n.21C>G (GLA) | ||
| XR_938397.2:n.42C>G (GLA) | ||
| NM_001199973.2:c.301-4025G>C (RPL36A-HNRNPH2) | NP_001186902.2:n.301-4025G>C | |
| NM_001199974.2:c.178-4025G>C (RPL36A-HNRNPH2) | NP_001186903.2:n.178-4025G>C | |
| NM_000169.3:c.-8C>G (GLA) MANE Select | NP_000160.1:n.-8C>G | |
| NR_164783.1:n.15C>G (GLA) |