Linked Data
dbSNP Id:
rs769635919
ExAC:
13:113783958 A / C
gnomAD v2:
13-113783958-A-C
gnomAD v3:
13-113129644-A-C
gnomAD v4:
13-113129644-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113129644A>C , CM000675.2:g.113129644A>C | GRCh38 |
| NC_000013.10:g.113783958A>C , CM000675.1:g.113783958A>C | GRCh37 |
| NC_000013.9:g.112831959A>C | NCBI36 |
| NG_009258.1:g.11846A>C , LRG_548:g.11846A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375559.8:c.231+32A>C (F10) MANE Select | ENSP00000364709.3:n.231+32A>C | |
| ENST00000375551.7:c.231+32A>C (F10) | ENSP00000364701.3:n.231+32A>C | |
| ENST00000375559.7:c.231+32A>C (F10) | ENSP00000364709.3:n.231+32A>C | |
| ENST00000409306.5:c.231+32A>C (F10) | ENSP00000387092.1:n.231+32A>C | |
| ENST00000410083.6:c.231+32A>C (F10) | ENSP00000386320.2:n.231+32A>C | |
| ENST00000477269.5:n.268+32A>C (F10) | ||
| ENST00000483537.1:n.251+32A>C (F10) | ||
| NM_000504.3:c.231+32A>C , LRG_548t1:c.231+32A>C (F10) | NP_000495.1:n.231+32A>C | |
| NM_001312674.1:c.231+32A>C (F10) | NP_001299603.1:n.231+32A>C | |
| NM_001312675.1:c.231+32A>C (F10) | NP_001299604.1:n.231+32A>C | |
| NR_126424.1:n.41+362T>G (F10-AS1) | ||
| NM_000504.4:c.231+32A>C (F10) MANE Select | NP_000495.1:n.231+32A>C | |
| NM_001312674.2:c.231+32A>C (F10) | NP_001299603.1:n.231+32A>C | |
| NM_001312675.2:c.231+32A>C (F10) | NP_001299604.1:n.231+32A>C |