Linked Data
dbSNP Id:
rs1282175665
gnomAD v2:
2-241808504-T-A
gnomAD v3:
2-240869087-T-A
gnomAD v4:
2-240869087-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869087T>A , CM000664.2:g.240869087T>A | GRCh38 |
| NC_000002.11:g.241808504T>A , CM000664.1:g.241808504T>A | GRCh37 |
| NC_000002.10:g.241457177T>A | NCBI36 |
| NG_008005.1:g.5343T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.165+57T>A MANE Select | ENSP00000302620.3:n.165+57T>A | |
| ENST00000307503.3:c.165+57T>A | ENSP00000302620.3:n.165+57T>A | |
| ENST00000472436.1:n.185+57T>A | ||
| NM_000030.2:c.165+57T>A | NP_000021.1:n.165+57T>A | |
| XR_924060.1:n.405+1146A>T | ||
| NM_000030.3:c.165+57T>A MANE Select | NP_000021.1:n.165+57T>A |