Linked Data
dbSNP Id:
rs762337270
ExAC:
11:59211211 G / A
gnomAD v2:
11-59211211-G-A
gnomAD v3:
11-59443738-G-A
gnomAD v4:
11-59443738-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.59443738G>A , CM000673.2:g.59443738G>A | GRCh38 |
| NC_000011.9:g.59211211G>A , CM000673.1:g.59211211G>A | GRCh37 |
| NC_000011.8:g.58967787G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641045.1:c.570G>A MANE Select | ENSP00000493195.1:p.Leu190= | |
| ENST00000302030.2:c.570G>A | ENSP00000303096.2:p.Leu190= | |
| NM_001004728.1:c.570G>A | NP_001004728.1:p.Leu190= | |
| XM_011544810.1:c.570G>A | XP_011543112.1:p.Leu190= | |
| NM_001004728.2:c.570G>A MANE Select | NP_001004728.1:p.Leu190= |