Linked Data
dbSNP Id:
rs1663698216
gnomAD v3:
1-154191971-C-T
gnomAD v4:
1-154191971-C-T
MyVariant Identifiers:
chr1:g.154164447C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154191971C>T , CM000663.2:g.154191971C>T | GRCh38 |
| NC_000001.10:g.154164447C>T , CM000663.1:g.154164447C>T | GRCh37 |
| NC_000001.9:g.152431071C>T | NCBI36 |
| NG_008621.1:g.5163G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368530.7:c.48G>A | ENSP00000357516.3:p.Lys16= | |
| ENST00000651641.1:c.48G>A MANE Select | ENSP00000498577.1:p.Lys16= | |
| ENST00000651644.1:c.48G>A | ENSP00000498648.1:p.Lys16= | |
| ENST00000271850.11:c.48G>A | ENSP00000271850.7:p.Lys16= | |
| ENST00000368530.6:c.48G>A | ENSP00000357516.2:p.Lys16= | |
| ENST00000515609.1:c.48G>A | ENSP00000426306.1:p.Lys16= | |
| NM_152263.3:c.48G>A | NP_689476.2:p.Lys16= | |
| NR_103460.1:n.97G>A | ||
| XM_006711515.1:c.48G>A | XP_006711578.1:p.Lys16= | |
| XM_006711517.1:c.48G>A | XP_006711580.1:p.Lys16= | |
| XM_006711518.1:c.48G>A | XP_006711581.1:p.Lys16= | |
| XM_006711519.1:c.48G>A | XP_006711582.1:p.Lys16= | |
| XM_006711520.1:c.48G>A | XP_006711583.1:p.Lys16= | |
| XM_006711521.1:c.48G>A | XP_006711584.1:p.Lys16= | |
| XM_011509950.1:c.48G>A | XP_011508252.1:p.Lys16= | |
| XM_011509951.1:c.48G>A | XP_011508253.1:p.Lys16= | |
| NM_001364679.1:c.48G>A | NP_001351608.1:p.Lys16= | |
| NM_001364680.1:c.48G>A | NP_001351609.1:p.Lys16= | |
| NM_001364681.1:c.48G>A | NP_001351610.1:p.Lys16= | |
| NM_001364682.1:c.48G>A | NP_001351611.1:p.Lys16= | |
| NM_152263.4:c.48G>A MANE Select | NP_689476.2:p.Lys16= | |
| NM_001364679.2:c.48G>A | NP_001351608.1:p.Lys16= | |
| NM_001364680.2:c.48G>A | NP_001351609.1:p.Lys16= | |
| NM_001364681.2:c.48G>A | NP_001351610.1:p.Lys16= | |
| NR_103460.2:n.130G>A |