Linked Data
dbSNP Id:
rs174479
gnomAD v2:
11-61678754-C-G
gnomAD v3:
11-61911282-C-G
gnomAD v4:
11-61911282-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61911282C>G , CM000673.2:g.61911282C>G | GRCh38 |
| NC_000011.9:g.61678754C>G , CM000673.1:g.61678754C>G | GRCh37 |
| NC_000011.8:g.61435330C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394836.7:c.12-2976G>C MANE Select | ENSP00000378313.2:n.12-2976G>C | |
| ENST00000531922.2:c.153-2976G>C | ENSP00000435444.2:n.153-2976G>C | |
| ENST00000301773.9:c.153-2976G>C | ENSP00000301773.5:n.153-2976G>C | |
| ENST00000394836.6:c.12-2976G>C | ENSP00000378313.2:n.12-2976G>C | |
| ENST00000531922.1:c.153-2976G>C | ENSP00000435444.1:n.153-2976G>C | |
| NM_001271686.1:c.153-2976G>C | NP_001258615.1:n.153-2976G>C | |
| NM_013401.3:c.12-2976G>C | NP_037533.2:n.12-2976G>C | |
| XM_005274140.3:c.153-2976G>C | XP_005274197.1:n.153-2976G>C | |
| XM_006718647.2:c.153-2976G>C | XP_006718710.1:n.153-2976G>C | |
| XM_011545196.1:c.153-2976G>C | XP_011543498.1:n.153-2976G>C | |
| XM_011545197.1:c.30-2976G>C | XP_011543499.1:n.30-2976G>C | |
| XM_011545198.1:c.12-2976G>C | XP_011543500.1:n.12-2976G>C | |
| XM_011545199.1:c.153-2976G>C | XP_011543501.1:n.153-2976G>C | |
| XM_011545201.1:c.153-2976G>C | XP_011543503.1:n.153-2976G>C | |
| XM_005274140.5:c.153-2976G>C | XP_005274197.1:n.153-2976G>C | |
| XM_006718647.4:c.153-2976G>C | XP_006718710.1:n.153-2976G>C | |
| XM_011545196.2:c.153-2976G>C | XP_011543498.1:n.153-2976G>C | |
| XM_011545197.2:c.30-2976G>C | XP_011543499.1:n.30-2976G>C | |
| XM_011545198.2:c.12-2976G>C | XP_011543500.1:n.12-2976G>C | |
| XM_011545199.2:c.153-2976G>C | XP_011543501.1:n.153-2976G>C | |
| XM_011545201.3:c.153-2976G>C | XP_011543503.1:n.153-2976G>C | |
| NM_013401.4:c.12-2976G>C MANE Select | NP_037533.2:n.12-2976G>C | |
| NM_001271686.2:c.153-2976G>C | NP_001258615.1:n.153-2976G>C |