Linked Data
dbSNP Id:
rs441
gnomAD v2:
12-112228849-T-C
gnomAD v3:
12-111791045-T-C
gnomAD v4:
12-111791045-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.111791045T>C , CM000674.2:g.111791045T>C | GRCh38 |
| NC_000012.11:g.112228849T>C , CM000674.1:g.112228849T>C | GRCh37 |
| NC_000012.10:g.110713232T>C | NCBI36 |
| NG_012250.1:g.29504T>C | |
| NG_012250.2:g.29159T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261733.7:c.682-261T>C MANE Select | ENSP00000261733.2:n.682-261T>C | |
| ENST00000546840.3:c.672-261T>C | ||
| ENST00000261733.6:c.682-261T>C | ENSP00000261733.2:n.682-261T>C | |
| ENST00000416293.7:c.541-261T>C | ENSP00000403349.3:n.541-261T>C | |
| ENST00000546840.2:c.667-261T>C | ENSP00000450353.3:n.667-261T>C | |
| ENST00000548536.1:c.*558-261T>C | ENSP00000448179.1:n.*558-261T>C | |
| NM_000690.3:c.682-261T>C | NP_000681.2:n.682-261T>C | |
| NM_001204889.1:c.541-261T>C | NP_001191818.1:n.541-261T>C | |
| NM_000690.4:c.682-261T>C MANE Select | NP_000681.2:n.682-261T>C | |
| NM_001204889.2:c.541-261T>C | NP_001191818.1:n.541-261T>C |