Linked Data
dbSNP Id:
rs1412074020
gnomAD v2:
2-136574990-G-A
gnomAD v3:
2-135817420-G-A
gnomAD v4:
2-135817420-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135817420G>A , CM000664.2:g.135817420G>A | GRCh38 |
| NC_000002.11:g.136574990G>A , CM000664.1:g.136574990G>A | GRCh37 |
| NC_000002.10:g.136291460G>A | NCBI36 |
| NG_008104.2:g.42750C>T , LRG_338:g.42750C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264162.7:c.1628C>T MANE Select | ENSP00000264162.2:p.Pro543Leu | |
| ENST00000264162.6:c.1628C>T | ENSP00000264162.2:p.Pro543Leu | |
| NM_002299.2:c.1628C>T , LRG_338t1:c.1628C>T | NP_002290.2:p.Pro543Leu | |
| NM_002299.3:c.1628C>T | NP_002290.2:p.Pro543Leu | |
| XM_017004088.2:c.1628C>T | XP_016859577.1:p.Pro543Leu | |
| NM_002299.4:c.1628C>T MANE Select | NP_002290.2:p.Pro543Leu |