Linked Data
dbSNP Id:
rs768345769
ExAC:
6:31324746 G / A
gnomAD v2:
6-31324746-G-A
gnomAD v4:
6-31356969-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31356969G>A , CM000668.2:g.31356969G>A | GRCh38 |
| NC_000006.11:g.31324746G>A , CM000668.1:g.31324746G>A | GRCh37 |
| NC_000006.10:g.31432725G>A | NCBI36 |
| NG_023187.1:g.5244C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.1547-12C>T | ||
| ENST00000481849.6:n.1547-12C>T | ||
| ENST00000497377.6:n.1547-12C>T | ||
| ENST00000640094.2:c.74-12C>T | ENSP00000491275.2:n.74-12C>T | |
| ENST00000696558.1:c.74-12C>T | ENSP00000512716.1:n.74-12C>T | |
| ENST00000696559.1:c.74-12C>T | ENSP00000512717.1:n.74-12C>T | |
| ENST00000696560.1:c.74-12C>T | ENSP00000512718.1:n.74-12C>T | |
| ENST00000696561.1:c.74-12C>T | ENSP00000512719.1:n.74-12C>T | |
| ENST00000696562.1:c.74-12C>T | ENSP00000512720.1:n.74-12C>T | |
| ENST00000412585.7:c.74-12C>T MANE Select | ENSP00000399168.2:n.74-12C>T | |
| ENST00000412585.6:c.74-12C>T | ENSP00000399168.2:n.74-12C>T | |
| ENST00000434333.1:c.95C>T | ENSP00000405931.1:p.Ser32Phe | |
| ENST00000498007.1:n.95-12C>T | ||
| ENST00000603274.1:n.323G>A | ||
| NM_005514.6:c.74-12C>T | NP_005505.2:n.74-12C>T | |
| XM_011514556.1:c.95C>T | XP_011512858.1:p.Ser32Phe | |
| XM_011514557.1:c.74-12C>T | XP_011512859.1:n.74-12C>T | |
| XR_926175.1:n.84-12C>T | ||
| NM_005514.7:c.74-12C>T | NP_005505.2:n.74-12C>T | |
| NM_005514.8:c.74-12C>T MANE Select | NP_005505.2:n.74-12C>T |