Linked Data
dbSNP Id:
rs368537638
gnomAD v4:
1-230704256-G-T
MyVariant Identifiers:
chr1:g.230840002G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.230704256G>T , CM000663.2:g.230704256G>T | GRCh38 |
| NC_000001.10:g.230840002G>T , CM000663.1:g.230840002G>T | GRCh37 |
| NC_000001.9:g.228906625G>T | NCBI36 |
| NG_008836.1:g.15335C>A | |
| NG_008836.2:g.15335C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366667.6:c.1179C>A MANE Select | ENSP00000355627.5:p.Pro393= | |
| ENST00000679684.1:c.1179C>A | ENSP00000505981.1:p.Pro393= | |
| ENST00000679738.1:c.1179C>A | ENSP00000505063.1:p.Pro393= | |
| ENST00000679802.1:c.*638C>A | ENSP00000505184.1:n.*638C>A | |
| ENST00000679854.1:n.5484C>A | ||
| ENST00000679957.1:c.1179C>A | ENSP00000506646.1:p.Pro393= | |
| ENST00000680041.1:c.1179C>A | ENSP00000504866.1:p.Pro393= | |
| ENST00000680783.1:c.829+5739C>A | ENSP00000506329.1:n.829+5739C>A | |
| ENST00000681269.1:c.1179C>A | ENSP00000505985.1:p.Pro393= | |
| ENST00000681347.1:n.3285C>A | ||
| ENST00000681514.1:c.1179C>A | ENSP00000505963.1:p.Pro393= | |
| ENST00000681772.1:c.*673C>A | ENSP00000505829.1:n.*673C>A | |
| ENST00000366667.4:c.1206C>A | ENSP00000355627.4:p.Pro402= | |
| NM_000029.3:c.1206C>A | NP_000020.1:p.Pro402= | |
| NM_000029.4:c.1206C>A | NP_000020.1:p.Pro402= | |
| NM_001382817.3:c.1179C>A | NP_001369746.2:p.Pro393= | |
| NM_001384479.1:c.1179C>A MANE Select | NP_001371408.1:p.Pro393= |