MyVariant.info:
GRCh38
chr19:g.54109321G>A
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.35028078 (AMR)
Genomes Max Group AF
0.34975468 (AMR)
Exomes Max Group AF
0.37427284 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.54109321G>A , CM000681.2:g.54109321G>A | GRCh38 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391759.6:c.353+730C>T MANE Select | ENSP00000375639.1:n.353+730C>T | |
| ENST00000391757.1:c.353+730C>T | ENSP00000375637.1:n.353+730C>T | |
| ENST00000391758.5:c.326+730C>T | ENSP00000375638.1:n.326+730C>T | |
| ENST00000391759.5:c.353+730C>T | ENSP00000375639.1:n.353+730C>T | |
| ENST00000420715.6:c.283-926C>T | ENSP00000395180.1:n.283-926C>T | |
| NM_013342.3:c.353+730C>T | NP_037474.1:n.353+730C>T | |
| XM_005278261.1:c.-8+730C>T | XP_005278318.1:n.-8+730C>T | |
| XM_011526875.1:c.326+730C>T | XP_011525177.1:n.326+730C>T | |
| XR_935813.1:n.376+730C>T | ||
| XR_936069.1:n.635G>A | ||
| NM_001321792.1:c.326+730C>T | NP_001308721.1:n.326+730C>T | |
| XR_935813.3:n.745+730C>T | ||
| NM_001321792.2:c.326+730C>T | NP_001308721.1:n.326+730C>T | |
| NM_013342.4:c.353+730C>T MANE Select | NP_037474.1:n.353+730C>T |