Linked Data
dbSNP Id:
rs2305945
gnomAD v2:
4-55971846-G-T
gnomAD v3:
4-55105679-G-T
gnomAD v4:
4-55105679-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55105679G>T , CM000666.2:g.55105679G>T | GRCh38 |
| NC_000004.11:g.55971846G>T , CM000666.1:g.55971846G>T | GRCh37 |
| NC_000004.10:g.55666603G>T | NCBI36 |
| NG_012004.1:g.24917C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263923.5:c.1645+153C>A MANE Select | ENSP00000263923.4:n.1645+153C>A | |
| ENST00000647068.1:n.1658+153C>A | ||
| ENST00000263923.4:c.1645+153C>A | ENSP00000263923.4:n.1645+153C>A | |
| ENST00000512566.1:n.1645+153C>A | ||
| NM_002253.2:c.1645+153C>A | NP_002244.1:n.1645+153C>A | |
| NM_002253.3:c.1645+153C>A | NP_002244.1:n.1645+153C>A | |
| NM_002253.4:c.1645+153C>A MANE Select | NP_002244.1:n.1645+153C>A |