Linked Data
dbSNP Id:
rs1321623778
gnomAD v2:
5-37045801-G-A
gnomAD v3:
5-37045699-G-A
gnomAD v4:
5-37045699-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37045699G>A , CM000667.2:g.37045699G>A | GRCh38 |
| NC_000005.9:g.37045801G>A , CM000667.1:g.37045801G>A | GRCh37 |
| NC_000005.8:g.37081558G>A | NCBI36 |
| NG_006987.1:g.173817G>A | |
| NG_006987.2:g.173817G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282516.13:c.6498+102G>A MANE Select | ENSP00000282516.8:n.6498+102G>A | |
| ENST00000652901.1:c.6498+102G>A | ENSP00000499536.1:n.6498+102G>A | |
| ENST00000282516.12:c.6498+102G>A | ENSP00000282516.8:n.6498+102G>A | |
| ENST00000448238.2:c.6498+102G>A | ENSP00000406266.2:n.6498+102G>A | |
| ENST00000621733.1:c.1-18879G>A | ENSP00000480694.1:n.1-18879G>A | |
| NM_015384.4:c.6498+102G>A | NP_056199.2:n.6498+102G>A | |
| NM_133433.3:c.6498+102G>A | NP_597677.2:n.6498+102G>A | |
| XM_005248280.2:c.6498+102G>A | XP_005248337.1:n.6498+102G>A | |
| XM_005248282.3:c.5754+102G>A | XP_005248339.2:n.5754+102G>A | |
| XM_006714467.2:c.6498+102G>A | XP_006714530.1:n.6498+102G>A | |
| XM_006714468.1:c.6300+102G>A | XP_006714531.1:n.6300+102G>A | |
| XM_011514014.1:c.6117+102G>A | XP_011512316.1:n.6117+102G>A | |
| XM_011514015.1:c.6498+102G>A | XP_011512317.1:n.6498+102G>A | |
| XM_005248280.3:c.6498+102G>A | XP_005248337.1:n.6498+102G>A | |
| XM_005248282.5:c.5838+102G>A | XP_005248339.3:n.5838+102G>A | |
| XM_006714468.2:c.6300+102G>A | XP_006714531.1:n.6300+102G>A | |
| XM_017009329.1:c.6498+102G>A | XP_016864818.1:n.6498+102G>A | |
| XM_017009330.2:c.4881+102G>A | XP_016864819.1:n.4881+102G>A | |
| XM_017009331.1:c.4872+102G>A | XP_016864820.1:n.4872+102G>A | |
| NM_133433.4:c.6498+102G>A MANE Select | NP_597677.2:n.6498+102G>A | |
| NM_015384.5:c.6498+102G>A | NP_056199.2:n.6498+102G>A |