Linked Data
dbSNP Id:
rs1892543604
gnomAD v4:
15-40621863-T-C
MyVariant Identifiers:
chr15:g.40914061T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.40621863T>C , CM000677.2:g.40621863T>C | GRCh38 |
| NC_000015.9:g.40914061T>C , CM000677.1:g.40914061T>C | GRCh37 |
| NC_000015.8:g.38701353T>C | NCBI36 |
| NG_033114.1:g.32615T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399668.7:c.1599T>C MANE Select | ENSP00000382576.3:p.Asn533= | |
| ENST00000346991.9:c.1677T>C | ENSP00000335463.6:p.Asn559= | |
| ENST00000399668.6:c.1599T>C | ENSP00000382576.2:p.Asn533= | |
| ENST00000527044.5:c.1599T>C | ENSP00000432654.2:p.Asn533= | |
| ENST00000533001.1:n.1744T>C | ||
| ENST00000534204.1:c.116-7461T>C | ENSP00000453857.1:n.116-7461T>C | |
| ENST00000614337.4:n.1915T>C | ||
| NM_144508.4:c.1599T>C | NP_653091.3:p.Asn533= | |
| NM_170589.4:c.1677T>C | NP_733468.3:p.Asn559= | |
| XM_011521816.1:c.1275T>C | XP_011520118.1:p.Asn425= | |
| XM_011521817.1:c.1599T>C | XP_011520119.1:p.Asn533= | |
| XM_017022432.1:c.1275T>C | XP_016877921.1:p.Asn425= | |
| NM_144508.5:c.1599T>C MANE Select | NP_653091.3:p.Asn533= | |
| NM_170589.5:c.1677T>C | NP_733468.3:p.Asn559= |