Linked Data
dbSNP Id:
rs12994997
gnomAD v2:
2-234173503-G-C
gnomAD v3:
2-233264857-G-C
gnomAD v4:
2-233264857-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233264857G>C , CM000664.2:g.233264857G>C | GRCh38 |
| NC_000002.11:g.234173503G>C , CM000664.1:g.234173503G>C | GRCh37 |
| NC_000002.10:g.233838242G>C | NCBI36 |
| NG_023038.1:g.18287G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392017.9:c.390-35G>C MANE Select | ENSP00000375872.4:n.390-35G>C | |
| ENST00000347464.9:c.210-5145G>C | ENSP00000318259.6:n.210-5145G>C | |
| ENST00000373525.9:c.210-5145G>C | ENSP00000362625.5:n.210-5145G>C | |
| ENST00000392017.8:c.390-35G>C | ENSP00000375872.4:n.390-35G>C | |
| ENST00000392018.1:c.390-35G>C | ENSP00000375873.1:n.390-35G>C | |
| ENST00000392020.8:c.390-35G>C | ENSP00000375875.4:n.390-35G>C | |
| ENST00000392021.7:c.*271-35G>C | ENSP00000375876.3:n.*271-35G>C | |
| ENST00000417017.5:c.389+792G>C | ENSP00000412046.1:n.389+792G>C | |
| ENST00000419681.5:c.210-5145G>C | ENSP00000398773.1:n.210-5145G>C | |
| ENST00000431917.5:c.138-35G>C | ENSP00000397512.1:n.138-35G>C | |
| ENST00000444735.5:c.210-5145G>C | ENSP00000409215.1:n.210-5145G>C | |
| ENST00000474148.5:n.517-35G>C | ||
| ENST00000479942.5:n.536-35G>C | ||
| NM_001190266.1:c.138-35G>C | NP_001177195.1:n.138-35G>C | |
| NM_001190267.1:c.42-35G>C | NP_001177196.1:n.42-35G>C | |
| NM_017974.3:c.390-35G>C | NP_060444.3:n.390-35G>C | |
| NM_030803.6:c.390-35G>C | NP_110430.5:n.390-35G>C | |
| NM_198890.2:c.210-5145G>C | NP_942593.2:n.210-5145G>C | |
| XM_005246082.1:c.390-35G>C | XP_005246139.1:n.390-35G>C | |
| XM_005246084.1:c.210-5145G>C | XP_005246141.1:n.210-5145G>C | |
| XM_005246086.1:c.210-5145G>C | XP_005246143.1:n.210-5145G>C | |
| XM_006712608.1:c.389+792G>C | XP_006712671.1:n.389+792G>C | |
| XR_241242.1:n.584-35G>C | ||
| NM_001363742.1:c.390-35G>C | NP_001350671.1:n.390-35G>C | |
| XM_005246084.2:c.210-5145G>C | XP_005246141.1:n.210-5145G>C | |
| XM_005246086.2:c.210-5145G>C | XP_005246143.1:n.210-5145G>C | |
| XM_006712608.3:c.389+792G>C | XP_006712671.1:n.389+792G>C | |
| XR_001738801.2:n.571-35G>C | ||
| XR_241242.3:n.571-35G>C | ||
| NM_030803.7:c.390-35G>C MANE Select | NP_110430.5:n.390-35G>C | |
| NM_001190266.2:c.138-35G>C | NP_001177195.1:n.138-35G>C | |
| NM_001190267.2:c.42-35G>C | NP_001177196.1:n.42-35G>C | |
| NM_001363742.2:c.390-35G>C | NP_001350671.1:n.390-35G>C | |
| NM_017974.4:c.390-35G>C | NP_060444.3:n.390-35G>C | |
| NM_198890.3:c.210-5145G>C | NP_942593.2:n.210-5145G>C |