Linked Data
dbSNP Id:
rs767931778
ExAC:
8:145742759 G / T
gnomAD v2:
8-145742759-G-T
gnomAD v3:
8-144517375-G-T
gnomAD v4:
8-144517375-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144517375G>T , CM000670.2:g.144517375G>T | GRCh38 |
| NC_000008.10:g.145742759G>T , CM000670.1:g.145742759G>T | GRCh37 |
| NC_000008.9:g.145713567G>T | NCBI36 |
| NG_016430.1:g.5452C>A | |
| NG_033083.1:g.4411G>T | |
| NG_016430.2:g.5452C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617875.6:c.213+39C>A MANE Select | ENSP00000482313.2:n.213+39C>A | |
| ENST00000524998.1:c.86+39C>A | ||
| ENST00000534270.1:n.159+39C>A | ||
| ENST00000534538.1:c.167+39C>A | ||
| ENST00000617875.4:c.213+39C>A | ENSP00000482313.1:n.213+39C>A | |
| ENST00000621189.4:c.-859+39C>A | ENSP00000483145.1:n.-859+39C>A | |
| NM_004260.3:c.213+39C>A | NP_004251.3:n.213+39C>A | |
| XM_011517380.1:c.213+39C>A | XP_011515682.1:n.213+39C>A | |
| XM_011517381.1:c.213+39C>A | XP_011515683.1:n.213+39C>A | |
| XM_011517382.1:c.213+39C>A | XP_011515684.1:n.213+39C>A | |
| XM_011517383.1:c.213+39C>A | XP_011515685.1:n.213+39C>A | |
| XM_011517384.1:c.213+39C>A | XP_011515686.1:n.213+39C>A | |
| XR_928366.1:n.254+39C>A | ||
| XR_928367.1:n.254+39C>A | ||
| XR_928368.1:n.256+39C>A | ||
| XM_011517384.3:c.213+39C>A | XP_011515686.1:n.213+39C>A | |
| XM_017013991.2:c.213+39C>A | XP_016869480.1:n.213+39C>A | |
| XM_017013992.2:c.213+39C>A | XP_016869481.1:n.213+39C>A | |
| XM_017013993.2:c.213+39C>A | XP_016869482.1:n.213+39C>A | |
| XM_017013994.2:c.213+39C>A | XP_016869483.1:n.213+39C>A | |
| XM_017013995.2:c.213+39C>A | XP_016869484.1:n.213+39C>A | |
| XM_017013996.2:c.213+39C>A | XP_016869485.1:n.213+39C>A | |
| XM_017013997.2:c.213+39C>A | XP_016869486.1:n.213+39C>A | |
| XM_017013998.1:c.213+39C>A | XP_016869487.1:n.213+39C>A | |
| XM_017013999.2:c.213+39C>A | XP_016869488.1:n.213+39C>A | |
| XM_017014001.2:c.-921+39C>A | XP_016869490.1:n.-921+39C>A | |
| XR_001745626.2:n.250+39C>A | ||
| XR_001745627.2:n.250+39C>A | ||
| XR_001745628.2:n.250+39C>A | ||
| XR_001745629.2:n.250+39C>A | ||
| XR_001745630.2:n.250+39C>A | ||
| NM_004260.4:c.213+39C>A MANE Select | NP_004251.4:n.213+39C>A |