Linked Data
dbSNP Id:
rs770350639
ExAC:
15:43892172 C / T
gnomAD v2:
15-43892172-C-T
gnomAD v4:
15-43599974-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43599974C>T , CM000677.2:g.43599974C>T | GRCh38 |
| NC_000015.9:g.43892172C>T , CM000677.1:g.43892172C>T | GRCh37 |
| NC_000015.8:g.41679464C>T | NCBI36 |
| NG_011636.1:g.23827G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450892.7:c.5225G>A (STRC) MANE Select | ENSP00000401513.2:p.Ser1742Asn | |
| ENST00000411560.1:n.142+441C>T (CKMT1B) | ||
| ENST00000428650.5:c.*2258G>A (STRC) | ENSP00000415991.1:n.*2258G>A | |
| ENST00000440125.5:c.*3017G>A (STRC) | ENSP00000394866.1:n.*3017G>A | |
| ENST00000448437.6:n.2345G>A (STRC) | ||
| ENST00000450892.6:c.5225G>A (STRC) | ENSP00000401513.2:p.Ser1742Asn | |
| ENST00000471703.5:n.3179G>A (STRC) | ||
| ENST00000485556.5:n.4080G>A (STRC) | ||
| ENST00000541030.5:c.2906G>A (STRC) | ENSP00000440413.1:p.Ser969Asn | |
| NM_153700.2:c.5225G>A (STRC) MANE Select | NP_714544.1:p.Ser1742Asn | |
| XM_011521277.1:c.5714G>A (STRC) | XP_011519579.1:p.Ser1905Asn | |
| XM_011521278.1:c.5330G>A (STRC) | XP_011519580.1:p.Ser1777Asn | |
| XM_011521279.1:c.5330G>A (STRC) | XP_011519581.1:p.Ser1777Asn |