Linked Data
dbSNP Id:
rs1752886092
gnomAD v4:
5-37045591-C-T
MyVariant Identifiers:
chr5:g.37045693C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37045591C>T , CM000667.2:g.37045591C>T | GRCh38 |
| NC_000005.9:g.37045693C>T , CM000667.1:g.37045693C>T | GRCh37 |
| NC_000005.8:g.37081450C>T | NCBI36 |
| NG_006987.1:g.173709C>T | |
| NG_006987.2:g.173709C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000282516.13:c.6492C>T MANE Select | ENSP00000282516.8:p.Asn2164= | |
| ENST00000652901.1:c.6492C>T | ENSP00000499536.1:p.Asn2164= | |
| ENST00000282516.12:c.6492C>T | ENSP00000282516.8:p.Asn2164= | |
| ENST00000448238.2:c.6492C>T | ENSP00000406266.2:p.Asn2164= | |
| ENST00000621733.1:c.1-18987C>T | ENSP00000480694.1:n.1-18987C>T | |
| NM_015384.4:c.6492C>T | NP_056199.2:p.Asn2164= | |
| NM_133433.3:c.6492C>T | NP_597677.2:p.Asn2164= | |
| XM_005248280.2:c.6492C>T | XP_005248337.1:p.Asn2164= | |
| XM_005248282.3:c.5748C>T | XP_005248339.2:p.Asn1916= | |
| XM_006714467.2:c.6492C>T | XP_006714530.1:p.Asn2164= | |
| XM_006714468.1:c.6294C>T | XP_006714531.1:p.Asn2098= | |
| XM_011514014.1:c.6111C>T | XP_011512316.1:p.Asn2037= | |
| XM_011514015.1:c.6492C>T | XP_011512317.1:p.Asn2164= | |
| XM_005248280.3:c.6492C>T | XP_005248337.1:p.Asn2164= | |
| XM_005248282.5:c.5832C>T | XP_005248339.3:p.Asn1944= | |
| XM_006714468.2:c.6294C>T | XP_006714531.1:p.Asn2098= | |
| XM_017009329.1:c.6492C>T | XP_016864818.1:p.Asn2164= | |
| XM_017009330.2:c.4875C>T | XP_016864819.1:p.Asn1625= | |
| XM_017009331.1:c.4866C>T | XP_016864820.1:p.Asn1622= | |
| NM_133433.4:c.6492C>T MANE Select | NP_597677.2:p.Asn2164= | |
| NM_015384.5:c.6492C>T | NP_056199.2:p.Asn2164= |