Linked Data
dbSNP Id:
rs1559546863
gnomAD v2:
2-136545605-G-T
gnomAD v3:
2-135788035-G-T
gnomAD v4:
2-135788035-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135788035G>T , CM000664.2:g.135788035G>T | GRCh38 |
| NC_000002.11:g.136545605G>T , CM000664.1:g.136545605G>T | GRCh37 |
| NC_000002.10:g.136262075G>T | NCBI36 |
| NG_008104.2:g.72135C>A , LRG_338:g.72135C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264162.7:c.*289C>A MANE Select | ENSP00000264162.2:n.*289C>A | |
| ENST00000264162.6:c.*289C>A | ENSP00000264162.2:n.*289C>A | |
| NM_002299.2:c.*289C>A , LRG_338t1:c.*289C>A | NP_002290.2:n.*289C>A | |
| NM_002299.3:c.*289C>A | NP_002290.2:n.*289C>A | |
| NM_002299.4:c.*289C>A MANE Select | NP_002290.2:n.*289C>A |