Linked Data
dbSNP Id:
rs556260990
gnomAD v2:
13-113771726-C-G
gnomAD v3:
13-113117412-C-G
gnomAD v4:
13-113117412-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113117412C>G , CM000675.2:g.113117412C>G | GRCh38 |
| NC_000013.10:g.113771726C>G , CM000675.1:g.113771726C>G | GRCh37 |
| NC_000013.9:g.112819727C>G | NCBI36 |
| NG_009262.1:g.16622C>G , LRG_554:g.16622C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346342.8:c.616-61C>G MANE Select | ENSP00000329546.4:n.616-61C>G | |
| ENST00000346342.7:c.616-61C>G | ENSP00000329546.3:n.616-61C>G | |
| ENST00000375581.3:c.682-61C>G | ENSP00000364731.3:n.682-61C>G | |
| ENST00000541084.5:c.430-61C>G | ENSP00000442051.2:n.430-61C>G | |
| NM_000131.4:c.682-61C>G , LRG_554t1:c.682-61C>G | NP_000122.1:n.682-61C>G | |
| NM_001267554.1:c.430-61C>G | NP_001254483.1:n.430-61C>G | |
| NM_019616.3:c.616-61C>G , LRG_554t2:c.616-61C>G | NP_062562.1:n.616-61C>G | |
| NR_051961.1:n.703-61C>G | ||
| XM_006719963.2:c.475-61C>G | XP_006720026.1:n.475-61C>G | |
| XM_011537474.1:c.724-61C>G | XP_011535776.1:n.724-61C>G | |
| XM_011537475.1:c.538-61C>G | XP_011535777.1:n.538-61C>G | |
| XM_011537476.1:c.376-61C>G | XP_011535778.1:n.376-61C>G | |
| XM_011537477.1:c.685-61C>G | XP_011535779.1:n.685-61C>G | |
| XM_006719963.3:c.520-61C>G | XP_006720026.2:n.520-61C>G | |
| XM_011537474.2:c.769-61C>G | XP_011535776.2:n.769-61C>G | |
| XM_011537475.2:c.583-61C>G | XP_011535777.2:n.583-61C>G | |
| XM_011537476.2:c.376-61C>G | XP_011535778.1:n.376-61C>G | |
| NM_019616.4:c.616-61C>G MANE Select | NP_062562.1:n.616-61C>G | |
| NR_051961.2:n.700-61C>G | ||
| NM_001267554.2:c.430-61C>G | NP_001254483.1:n.430-61C>G |