Linked Data
dbSNP Id:
rs1215033522
gnomAD v2:
2-208994168-G-A
gnomAD v3:
2-208129444-G-A
gnomAD v4:
2-208129444-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208129444G>A , CM000664.2:g.208129444G>A | GRCh38 |
| NC_000002.11:g.208994168G>A , CM000664.1:g.208994168G>A | GRCh37 |
| NC_000002.10:g.208702413G>A | NCBI36 |
| NG_008038.1:g.5387C>T | |
| NG_008039.1:g.146C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282141.4:c.249C>T MANE Select | ENSP00000282141.3:p.Pro83= | |
| ENST00000282141.3:c.249C>T | ENSP00000282141.3:p.Pro83= | |
| NM_020989.3:c.249C>T | NP_066269.1:p.Pro83= | |
| NR_038437.1:n.98-7612G>A | ||
| XM_011510661.1:c.249C>T | XP_011508963.1:p.Pro83= | |
| XM_011510662.1:c.249C>T | XP_011508964.1:p.Pro83= | |
| XM_011510663.1:c.120C>T | XP_011508965.1:p.Pro40= | |
| NM_020989.4:c.249C>T MANE Select | NP_066269.1:p.Pro83= |