Linked Data
dbSNP Id:
rs1202497699
gnomAD v2:
2-10188307-T-C
gnomAD v3:
2-10048180-T-C
gnomAD v4:
2-10048180-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.10048180T>C , CM000664.2:g.10048180T>C | GRCh38 |
| NC_000002.11:g.10188307T>C , CM000664.1:g.10188307T>C | GRCh37 |
| NC_000002.10:g.10105758T>C | NCBI36 |
| NG_017199.1:g.9626T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305883.6:c.843T>C MANE Select | ENSP00000307023.1:p.Pro281= | |
| ENST00000305883.5:c.843T>C | ENSP00000307023.1:p.Pro281= | |
| ENST00000535335.1:c.792T>C | ENSP00000442722.1:p.Pro264= | |
| ENST00000540845.5:c.792T>C | ENSP00000444690.1:p.Pro264= | |
| NM_001177716.1:c.792T>C | NP_001171187.1:p.Pro264= | |
| NM_001177718.1:c.792T>C | NP_001171189.1:p.Pro264= | |
| NM_003597.4:c.843T>C | NP_003588.1:p.Pro281= | |
| XM_005246179.3:c.792T>C | XP_005246236.1:p.Pro264= | |
| NM_003597.5:c.843T>C MANE Select | NP_003588.1:p.Pro281= | |
| NM_001177716.2:c.792T>C | NP_001171187.1:p.Pro264= | |
| NM_001177718.2:c.792T>C | NP_001171189.1:p.Pro264= |