Linked Data
dbSNP Id:
rs1473149079
gnomAD v2:
17-7126751-G-A
gnomAD v3:
17-7223432-G-A
gnomAD v4:
17-7223432-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7223432G>A , CM000679.2:g.7223432G>A | GRCh38 |
| NC_000017.10:g.7126751G>A , CM000679.1:g.7126751G>A | GRCh37 |
| NC_000017.9:g.7067475G>A | NCBI36 |
| NG_007975.1:g.8599G>A | |
| NG_008391.2:g.1619C>T | |
| NG_033038.1:g.16113C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1182+195G>A MANE Select | ENSP00000349297.5:n.1182+195G>A | |
| ENST00000322910.9:c.*1137+195G>A | ENSP00000325395.5:n.*1137+195G>A | |
| ENST00000350303.9:c.1116+195G>A | ENSP00000344152.5:n.1116+195G>A | |
| ENST00000356839.9:c.1182+195G>A | ENSP00000349297.5:n.1182+195G>A | |
| ENST00000542255.6:c.40+195G>A | ||
| ENST00000543245.6:c.1251+195G>A | ENSP00000438689.2:n.1251+195G>A | |
| ENST00000578579.2:n.142G>A | ||
| ENST00000578824.5:n.598+195G>A | ||
| ENST00000579425.5:n.206+195G>A | ||
| ENST00000579546.1:c.19+195G>A | ||
| ENST00000583858.5:c.211+195G>A | ||
| ENST00000585203.6:n.390+195G>A | ||
| NM_000018.3:c.1182+195G>A | NP_000009.1:n.1182+195G>A | |
| NM_001033859.2:c.1116+195G>A | NP_001029031.1:n.1116+195G>A | |
| NM_001270447.1:c.1251+195G>A | NP_001257376.1:n.1251+195G>A | |
| NM_001270448.1:c.954+195G>A | NP_001257377.1:n.954+195G>A | |
| XM_006721516.2:c.1182+195G>A | XP_006721579.2:n.1182+195G>A | |
| XM_011523829.1:c.1182+195G>A | XP_011522131.1:n.1182+195G>A | |
| XM_011523830.1:c.1182+195G>A | XP_011522132.1:n.1182+195G>A | |
| XR_934021.1:n.1289+195G>A | ||
| XR_934022.1:n.1289+195G>A | ||
| XR_934023.1:n.1289+195G>A | ||
| XM_006721516.3:c.1182+195G>A | XP_006721579.2:n.1182+195G>A | |
| XM_011523829.2:c.1182+195G>A | XP_011522131.1:n.1182+195G>A | |
| XM_011523830.2:c.1182+195G>A | XP_011522132.1:n.1182+195G>A | |
| XM_024450741.1:c.1182+195G>A | XP_024306509.1:n.1182+195G>A | |
| XR_934021.2:n.1241+195G>A | ||
| XR_934022.2:n.1241+195G>A | ||
| XR_934023.2:n.1241+195G>A | ||
| NM_000018.4:c.1182+195G>A MANE Select | NP_000009.1:n.1182+195G>A | |
| NM_001033859.3:c.1116+195G>A | NP_001029031.1:n.1116+195G>A | |
| NM_001270447.2:c.1251+195G>A | NP_001257376.1:n.1251+195G>A | |
| NM_001270448.2:c.954+195G>A | NP_001257377.1:n.954+195G>A |