Linked Data
dbSNP Id:
rs974438471
gnomAD v2:
2-136616683-C-T
gnomAD v3:
2-135859113-C-T
gnomAD v4:
2-135859113-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135859113C>T , CM000664.2:g.135859113C>T | GRCh38 |
| NC_000002.11:g.136616683C>T , CM000664.1:g.136616683C>T | GRCh37 |
| NC_000002.10:g.136333153C>T | NCBI36 |
| NG_008104.2:g.1057G>A , LRG_338:g.1057G>A | |
| NG_008958.1:g.22329G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264156.3:c.1362+188G>A MANE Select | ENSP00000264156.2:n.1362+188G>A | |
| ENST00000264156.2:c.1362+188G>A | ENSP00000264156.2:n.1362+188G>A | |
| ENST00000492091.1:n.181+3494G>A | ||
| NM_005915.5:c.1362+188G>A | NP_005906.2:n.1362+188G>A | |
| NM_005915.6:c.1362+188G>A MANE Select | NP_005906.2:n.1362+188G>A |