Linked Data
dbSNP Id:
rs1178049847
gnomAD v2:
5-56155766-T-C
gnomAD v3:
5-56859939-T-C
gnomAD v4:
5-56859939-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56859939T>C , CM000667.2:g.56859939T>C | GRCh38 |
| NC_000005.9:g.56155766T>C , CM000667.1:g.56155766T>C | GRCh37 |
| NC_000005.8:g.56191523T>C | NCBI36 |
| NG_031884.1:g.49867T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399503.4:c.834+24T>C MANE Select | ENSP00000382423.3:n.834+24T>C | |
| ENST00000399503.3:c.834+24T>C | ENSP00000382423.3:n.834+24T>C | |
| NM_005921.1:c.834+24T>C | NP_005912.1:n.834+24T>C | |
| XM_005248519.3:c.456+24T>C | XP_005248576.2:n.456+24T>C | |
| XM_011543406.1:c.579+24T>C | XP_011541708.1:n.579+24T>C | |
| XM_011543407.1:c.834+24T>C | XP_011541709.1:n.834+24T>C | |
| XM_011543408.1:c.834+24T>C | XP_011541710.1:n.834+24T>C | |
| XM_017009484.1:c.423+24T>C | XP_016864973.1:n.423+24T>C | |
| XM_017009485.1:c.345+24T>C | XP_016864974.1:n.345+24T>C | |
| XR_001742068.2:n.865+24T>C | ||
| NM_005921.2:c.834+24T>C MANE Select | NP_005912.1:n.834+24T>C |