Linked Data
dbSNP Id:
rs11950646
gnomAD v2:
5-138714474-G-A
gnomAD v3:
5-139378785-G-A
gnomAD v4:
5-139378785-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.139378785G>A , CM000667.2:g.139378785G>A | GRCh38 |
| NC_000005.9:g.138714474G>A , CM000667.1:g.138714474G>A | GRCh37 |
| NC_000005.8:g.138742373G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000348729.8:c.1074-101C>T MANE Select | ENSP00000302701.4:n.1074-101C>T | |
| ENST00000348729.7:c.1074-101C>T | ENSP00000302701.4:n.1074-101C>T | |
| ENST00000353963.7:c.1086-101C>T | ENSP00000302851.5:n.1086-101C>T | |
| ENST00000504513.1:c.313-101C>T | ||
| NM_005847.4:c.1074-101C>T | NP_005838.3:n.1074-101C>T | |
| NM_152685.3:c.1086-101C>T | NP_689898.2:n.1086-101C>T | |
| XM_005272148.3:c.1194-101C>T | XP_005272205.3:n.1194-101C>T | |
| XM_005272149.3:c.1182-101C>T | XP_005272206.3:n.1182-101C>T | |
| XM_006714741.2:c.1194-101C>T | XP_006714804.2:n.1194-101C>T | |
| XM_011543765.1:c.1194-101C>T | XP_011542067.1:n.1194-101C>T | |
| XM_011543766.1:c.975-101C>T | XP_011542068.1:n.975-101C>T | |
| XM_011543767.1:c.879-101C>T | XP_011542069.1:n.879-101C>T | |
| XM_011543768.1:c.759-101C>T | XP_011542070.1:n.759-101C>T | |
| XM_011543769.1:c.369-101C>T | XP_011542071.1:n.369-101C>T | |
| XM_005272149.4:c.1182-101C>T | XP_005272206.3:n.1182-101C>T | |
| XM_011543765.2:c.1194-101C>T | XP_011542067.1:n.1194-101C>T | |
| NM_005847.5:c.1074-101C>T MANE Select | NP_005838.3:n.1074-101C>T | |
| NM_152685.4:c.1086-101C>T | NP_689898.2:n.1086-101C>T |