Linked Data
dbSNP Id:
rs681900
gnomAD v2:
2-75074967-T-C
gnomAD v3:
2-74847840-T-C
gnomAD v4:
2-74847840-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74847840T>C , CM000664.2:g.74847840T>C | GRCh38 |
| NC_000002.11:g.75074967T>C , CM000664.1:g.75074967T>C | GRCh37 |
| NC_000002.10:g.74928475T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000290573.7:c.64-6453T>C MANE Select | ENSP00000290573.2:n.64-6453T>C | |
| ENST00000290573.6:c.64-6453T>C | ENSP00000290573.2:n.64-6453T>C | |
| ENST00000409174.1:c.-21-6453T>C | ENSP00000387140.1:n.-21-6453T>C | |
| NM_000189.4:c.64-6453T>C | NP_000180.2:n.64-6453T>C | |
| XM_005264280.1:c.64-6453T>C | XP_005264337.1:n.64-6453T>C | |
| XM_011532807.1:c.64-6453T>C | XP_011531109.1:n.64-6453T>C | |
| XM_005264280.2:c.64-6453T>C | XP_005264337.1:n.64-6453T>C | |
| XM_011532807.2:c.64-6453T>C | XP_011531109.1:n.64-6453T>C | |
| XM_017003945.2:c.64-6453T>C | XP_016859434.1:n.64-6453T>C | |
| NM_000189.5:c.64-6453T>C MANE Select | NP_000180.2:n.64-6453T>C | |
| NM_001371525.1:c.-21-6453T>C | NP_001358454.1:n.-21-6453T>C |