Linked Data
dbSNP Id:
rs1680916839
gnomAD v4:
1-244863636-G-A
MyVariant Identifiers:
chr1:g.245026938G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.244863636G>A , CM000663.2:g.244863636G>A | GRCh38 |
| NC_000001.10:g.245026938G>A , CM000663.1:g.245026938G>A | GRCh37 |
| NC_000001.9:g.243093561G>A | NCBI36 |
| NG_042184.1:g.5890C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704074.1:c.312+38C>T | ||
| ENST00000283179.14:c.634+38C>T | ENSP00000283179.10:n.634+38C>T | |
| ENST00000444376.7:c.634+38C>T | ENSP00000393151.2:n.634+38C>T | |
| ENST00000476241.2:n.819+38C>T | ||
| ENST00000638475.1:c.418+38C>T | ENSP00000491305.1:n.418+38C>T | |
| ENST00000638952.1:n.903C>T | ||
| ENST00000640056.1:c.18C>T | ENSP00000492620.1:p.Arg6= | |
| ENST00000640218.2:c.672C>T MANE Select | ENSP00000491215.1:p.Arg224= | |
| ENST00000640306.1:c.634+38C>T | ENSP00000491685.1:n.634+38C>T | |
| ENST00000640440.1:c.334+38C>T | ENSP00000491263.1:n.334+38C>T | |
| ENST00000649899.1:n.858+38C>T | ||
| ENST00000283179.13:c.672C>T | ENSP00000283179.9:p.Arg224= | |
| ENST00000444376.6:c.634+38C>T | ENSP00000393151.2:n.634+38C>T | |
| ENST00000476241.1:n.818+38C>T | ||
| NM_004501.3:c.634+38C>T | NP_004492.2:n.634+38C>T | |
| NM_031844.2:c.672C>T | NP_114032.2:p.Arg224= | |
| NM_031844.3:c.672C>T MANE Select | NP_114032.2:p.Arg224= |