Linked Data
dbSNP Id:
rs6889608
gnomAD v2:
5-32719693-C-T
gnomAD v3:
5-32719587-C-T
gnomAD v4:
5-32719587-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.32719587C>T , CM000667.2:g.32719587C>T | GRCh38 |
| NC_000005.9:g.32719693C>T , CM000667.1:g.32719693C>T | GRCh37 |
| NC_000005.8:g.32755450C>T | NCBI36 |
| NG_028162.1:g.13951C>T | |
| NG_028162.2:g.35512C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265074.13:c.770-5111C>T MANE Select | ENSP00000265074.8:n.770-5111C>T | |
| ENST00000265074.12:c.770-5111C>T | ENSP00000265074.8:n.770-5111C>T | |
| ENST00000326958.5:c.122-5111C>T | ENSP00000318340.2:n.122-5111C>T | |
| ENST00000415167.2:c.770-5111C>T | ENSP00000398028.2:n.770-5111C>T | |
| ENST00000434067.6:c.122-5111C>T | ENSP00000388408.2:n.122-5111C>T | |
| ENST00000506712.1:n.131-5111C>T | ||
| ENST00000509104.5:c.101-5111C>T | ENSP00000425325.1:n.101-5111C>T | |
| NM_000908.3:c.770-5111C>T | NP_000899.1:n.770-5111C>T | |
| NM_001204375.1:c.770-5111C>T | NP_001191304.1:n.770-5111C>T | |
| NM_001204376.1:c.122-5111C>T | NP_001191305.1:n.122-5111C>T | |
| XM_005248309.1:c.122-5111C>T | XP_005248366.1:n.122-5111C>T | |
| XM_011514047.1:c.101-5111C>T | XP_011512349.1:n.101-5111C>T | |
| XM_011514048.1:c.50-5111C>T | XP_011512350.1:n.50-5111C>T | |
| XM_011514049.1:c.-8-5111C>T | XP_011512351.1:n.-8-5111C>T | |
| NM_001363652.1:c.122-5111C>T | NP_001350581.1:n.122-5111C>T | |
| NM_001364458.1:c.50-5111C>T | NP_001351387.1:n.50-5111C>T | |
| NM_001364460.1:c.121+8804C>T | NP_001351389.1:n.121+8804C>T | |
| XM_011514047.2:c.101-5111C>T | XP_011512349.1:n.101-5111C>T | |
| XM_011514049.3:c.-8-5111C>T | XP_011512351.1:n.-8-5111C>T | |
| XM_017009492.2:c.769+7042C>T | XP_016864981.1:n.769+7042C>T | |
| NM_001204375.2:c.770-5111C>T MANE Select | NP_001191304.1:n.770-5111C>T | |
| NM_000908.4:c.770-5111C>T | NP_000899.1:n.770-5111C>T | |
| NM_001363652.2:c.122-5111C>T | NP_001350581.1:n.122-5111C>T | |
| NM_001364458.2:c.50-5111C>T | NP_001351387.1:n.50-5111C>T | |
| NM_001364460.2:c.121+8804C>T | NP_001351389.1:n.121+8804C>T | |
| NM_001204376.2:c.122-5111C>T | NP_001191305.1:n.122-5111C>T |