gnomAD v3:
gnomAD v4:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32792494T>G , CM000674.2:g.32792494T>G | GRCh38 |
| NC_000012.11:g.32945428T>G , CM000674.1:g.32945428T>G | GRCh37 |
| NC_000012.10:g.32836695T>G | NCBI36 |
| NG_009000.1:g.109353A>C , LRG_398:g.109353A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700555.2:n.949-2A>C | ||
| ENST00000700557.2:n.538-2A>C | ||
| ENST00000700559.2:c.2256-2A>C | ENSP00000515065.2:n.2256-2A>C | |
| ENST00000546498.2:n.1133-2A>C | ||
| ENST00000549461.2:n.938-2A>C | ||
| ENST00000700555.1:c.877-2A>C | ENSP00000515062.1:n.877-2A>C | |
| ENST00000700556.1:c.917-2A>C | ||
| ENST00000700557.1:c.457-2A>C | ENSP00000515064.1:n.457-2A>C | |
| ENST00000700558.1:n.660-2A>C | ||
| ENST00000700559.1:c.1471-2A>C | ||
| ENST00000700560.1:n.1810A>C | ||
| ENST00000070846.11:c.2578-2A>C | ENSP00000070846.6:n.2578-2A>C | |
| ENST00000340811.9:c.2446-2A>C MANE Select | ENSP00000342800.5:n.2446-2A>C | |
| ENST00000070846.10:c.2578-2A>C | ENSP00000070846.6:n.2578-2A>C | |
| ENST00000340811.8:c.2446-2A>C | ENSP00000342800.4:n.2446-2A>C | |
| ENST00000546769.1:n.233-2A>C | ||
| ENST00000613243.1:c.2576-2A>C | ENSP00000478295.1:n.2576-2A>C | |
| NM_001005242.2:c.2446-2A>C | NP_001005242.2:n.2446-2A>C | |
| NM_004572.3:c.2578-2A>C , LRG_398t1:c.2578-2A>C | NP_004563.2:n.2578-2A>C | |
| NM_001005242.3:c.2446-2A>C MANE Select | NP_001005242.2:n.2446-2A>C | |
| NM_004572.4:c.2578-2A>C | NP_004563.2:n.2578-2A>C |