Linked Data
dbSNP Id:
rs202091055
ExAC:
2:215876131 C / A
gnomAD v2:
2-215876131-C-A
gnomAD v3:
2-215011407-C-A
gnomAD v4:
2-215011407-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.215011407C>A , CM000664.2:g.215011407C>A | GRCh38 |
| NC_000002.11:g.215876131C>A , CM000664.1:g.215876131C>A | GRCh37 |
| NC_000002.10:g.215584376C>A | NCBI36 |
| NG_007074.1:g.132021G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272895.12:c.2332+32G>T MANE Select | ENSP00000272895.7:n.2332+32G>T | |
| ENST00000272895.11:c.2332+32G>T | ENSP00000272895.7:n.2332+32G>T | |
| ENST00000389661.4:c.1378+32G>T | ENSP00000374312.4:n.1378+32G>T | |
| NM_015657.3:c.1378+32G>T | NP_056472.2:n.1378+32G>T | |
| NM_173076.2:c.2332+32G>T | NP_775099.2:n.2332+32G>T | |
| NR_103740.1:n.2576+32G>T | ||
| XM_011510951.1:c.2332+32G>T | XP_011509253.1:n.2332+32G>T | |
| XM_011510952.1:c.2332+32G>T | XP_011509254.1:n.2332+32G>T | |
| XM_011510951.2:c.2332+32G>T | XP_011509253.1:n.2332+32G>T | |
| NM_173076.3:c.2332+32G>T MANE Select | NP_775099.2:n.2332+32G>T | |
| NR_103740.2:n.2774+32G>T | ||
| NM_015657.4:c.1378+32G>T | NP_056472.2:n.1378+32G>T |