Linked Data
dbSNP Id:
rs13390159
gnomAD v2:
2-237156549-G-A
gnomAD v3:
2-236247906-G-A
gnomAD v4:
2-236247906-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.236247906G>A , CM000664.2:g.236247906G>A | GRCh38 |
| NC_000002.11:g.237156549G>A , CM000664.1:g.237156549G>A | GRCh37 |
| NC_000002.10:g.236821288G>A | NCBI36 |
| NG_053045.1:g.21440C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409749.8:c.206-6504C>T MANE Select | ENSP00000386532.3:n.206-6504C>T | |
| ENST00000409749.7:c.206-6504C>T | ENSP00000386532.3:n.206-6504C>T | |
| ENST00000430053.1:c.206-9950C>T | ENSP00000410021.1:n.206-9950C>T | |
| ENST00000487961.1:n.3050C>T | ||
| NM_212556.2:c.206-6504C>T | NP_997721.2:n.206-6504C>T | |
| NM_212556.3:c.206-6504C>T | NP_997721.2:n.206-6504C>T | |
| NM_212556.4:c.206-6504C>T MANE Select | NP_997721.2:n.206-6504C>T |