Linked Data
dbSNP Id:
rs1057519766
gnomAD v4:
13-28028203-G-A
MyVariant Identifiers:
chr13:g.28602340G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28028203G>A , CM000675.2:g.28028203G>A | GRCh38 |
| NC_000013.10:g.28602340G>A , CM000675.1:g.28602340G>A | GRCh37 |
| NC_000013.9:g.27500340G>A | NCBI36 |
| NG_007066.1:g.77366C>T , LRG_457:g.77366C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000241453.12:c.2028C>T MANE Select | ENSP00000241453.7:p.Asn676= | |
| ENST00000241453.11:c.2028C>T | ENSP00000241453.7:p.Asn676= | |
| ENST00000380987.2:c.2028C>T | ENSP00000370374.2:p.Asn676= | |
| NM_004119.2:c.2028C>T , LRG_457t1:c.2028C>T | NP_004110.2:p.Asn676= | |
| NR_130706.1:n.2110C>T | ||
| XM_011535015.1:c.1971C>T | XP_011533317.1:p.Asn657= | |
| XM_011535016.1:c.1503C>T | XP_011533318.1:p.Asn501= | |
| XM_011535017.1:c.1503C>T | XP_011533319.1:p.Asn501= | |
| XM_011535018.1:c.1503C>T | XP_011533320.1:p.Asn501= | |
| XM_011535015.2:c.1971C>T | XP_011533317.1:p.Asn657= | |
| XM_011535017.2:c.1503C>T | XP_011533319.1:p.Asn501= | |
| XM_011535018.2:c.1503C>T | XP_011533320.1:p.Asn501= | |
| XM_017020486.1:c.1812C>T | XP_016875975.1:p.Asn604= | |
| XM_017020487.1:c.1503C>T | XP_016875976.1:p.Asn501= | |
| XM_017020488.1:c.1149C>T | XP_016875977.1:p.Asn383= | |
| XM_017020489.1:c.1131C>T | XP_016875978.1:p.Asn377= | |
| NM_004119.3:c.2028C>T MANE Select | NP_004110.2:p.Asn676= | |
| NR_130706.2:n.2094C>T |