Linked Data
dbSNP Id:
rs1025398
gnomAD v2:
3-113585633-T-C
gnomAD v3:
3-113866786-T-C
gnomAD v4:
3-113866786-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.113866786T>C , CM000665.2:g.113866786T>C | GRCh38 |
| NC_000003.11:g.113585633T>C , CM000665.1:g.113585633T>C | GRCh37 |
| NC_000003.10:g.115068323T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358160.9:c.175-2721T>C MANE Select | ENSP00000350881.4:n.175-2721T>C | |
| ENST00000358160.8:c.175-2721T>C | ENSP00000350881.4:n.175-2721T>C | |
| ENST00000463760.2:n.38-2721T>C | ||
| ENST00000472384.5:c.175-2721T>C | ENSP00000417936.1:n.175-2721T>C | |
| ENST00000479212.5:n.246-2721T>C | ||
| ENST00000484714.2:c.175-2721T>C | ENSP00000418501.2:n.175-2721T>C | |
| ENST00000486457.5:n.211-2721T>C | ||
| ENST00000498183.5:n.267-2721T>C | ||
| NM_017577.4:c.175-2721T>C | NP_060047.3:n.175-2721T>C | |
| XM_005247546.1:c.175-2721T>C | XP_005247603.1:n.175-2721T>C | |
| XM_005247547.1:c.175-2721T>C | XP_005247604.1:n.175-2721T>C | |
| XM_011512930.1:c.145-2721T>C | XP_011511232.1:n.145-2721T>C | |
| XM_011512932.1:c.175-2721T>C | XP_011511234.1:n.175-2721T>C | |
| XM_005247546.2:c.175-2721T>C | XP_005247603.1:n.175-2721T>C | |
| XM_005247547.2:c.175-2721T>C | XP_005247604.1:n.175-2721T>C | |
| XM_017006646.1:c.175-2721T>C | XP_016862135.1:n.175-2721T>C | |
| XM_017006647.1:c.-727-2721T>C | XP_016862136.1:n.-727-2721T>C | |
| NM_017577.5:c.175-2721T>C MANE Select | NP_060047.3:n.175-2721T>C |