Linked Data
dbSNP Id:
rs781339363
ExAC:
2:215876134 C / T
gnomAD v2:
2-215876134-C-T
gnomAD v3:
2-215011410-C-T
gnomAD v4:
2-215011410-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.215011410C>T , CM000664.2:g.215011410C>T | GRCh38 |
| NC_000002.11:g.215876134C>T , CM000664.1:g.215876134C>T | GRCh37 |
| NC_000002.10:g.215584379C>T | NCBI36 |
| NG_007074.1:g.132018G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272895.12:c.2332+29G>A MANE Select | ENSP00000272895.7:n.2332+29G>A | |
| ENST00000272895.11:c.2332+29G>A | ENSP00000272895.7:n.2332+29G>A | |
| ENST00000389661.4:c.1378+29G>A | ENSP00000374312.4:n.1378+29G>A | |
| NM_015657.3:c.1378+29G>A | NP_056472.2:n.1378+29G>A | |
| NM_173076.2:c.2332+29G>A | NP_775099.2:n.2332+29G>A | |
| NR_103740.1:n.2576+29G>A | ||
| XM_011510951.1:c.2332+29G>A | XP_011509253.1:n.2332+29G>A | |
| XM_011510952.1:c.2332+29G>A | XP_011509254.1:n.2332+29G>A | |
| XM_011510951.2:c.2332+29G>A | XP_011509253.1:n.2332+29G>A | |
| NM_173076.3:c.2332+29G>A MANE Select | NP_775099.2:n.2332+29G>A | |
| NR_103740.2:n.2774+29G>A | ||
| NM_015657.4:c.1378+29G>A | NP_056472.2:n.1378+29G>A |