Linked Data
dbSNP Id:
rs182984765
gnomAD v2:
5-134367622-T-A
gnomAD v3:
5-135031932-T-A
gnomAD v4:
5-135031932-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135031932T>A , CM000667.2:g.135031932T>A | GRCh38 |
| NC_000005.9:g.134367622T>A , CM000667.1:g.134367622T>A | GRCh37 |
| NC_000005.8:g.134395521T>A | NCBI36 |
| NG_012114.1:g.7343A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265340.12:c.170-424A>T MANE Select | ENSP00000265340.6:n.170-424A>T | |
| ENST00000265340.11:c.170-424A>T | ENSP00000265340.6:n.170-424A>T | |
| ENST00000502676.1:c.170-424A>T | ENSP00000423624.1:n.170-424A>T | |
| ENST00000503586.1:c.292-424A>T | ||
| ENST00000504936.1:n.79A>T | ||
| ENST00000506438.5:c.170-424A>T | ENSP00000427542.1:n.170-424A>T | |
| ENST00000507253.5:c.170-424A>T | ENSP00000422908.1:n.170-424A>T | |
| NM_002653.4:c.170-424A>T | NP_002644.4:n.170-424A>T | |
| NM_002653.5:c.170-424A>T MANE Select | NP_002644.4:n.170-424A>T |