Linked Data
dbSNP Id:
rs4746822
gnomAD v2:
10-70982941-C-T
gnomAD v3:
10-69223185-C-T
gnomAD v4:
10-69223185-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.69223185C>T , CM000672.2:g.69223185C>T | GRCh38 |
| NC_000010.10:g.70982941C>T , CM000672.1:g.70982941C>T | GRCh37 |
| NC_000010.9:g.70652947C>T | NCBI36 |
| NG_051555.1:g.7883C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354624.6:c.63+2687C>T MANE Select | ENSP00000346643.5:n.63+2687C>T | |
| ENST00000354624.5:c.63+2687C>T | ENSP00000346643.5:n.63+2687C>T | |
| NM_025130.3:c.63+2687C>T | NP_079406.3:n.63+2687C>T | |
| NR_120648.1:n.326G>A | ||
| XM_011540195.1:c.63+2687C>T | XP_011538497.1:n.63+2687C>T | |
| XR_945818.1:n.196+2687C>T | ||
| XM_011540195.2:c.63+2687C>T | XP_011538497.1:n.63+2687C>T | |
| XR_001747209.1:n.196+2687C>T | ||
| NM_025130.4:c.63+2687C>T MANE Select | NP_079406.4:n.63+2687C>T |