Linked Data
dbSNP Id:
rs1009117555
gnomAD v2:
17-4613968-G-C
gnomAD v3:
17-4710673-G-C
gnomAD v4:
17-4710673-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4710673G>C , CM000679.2:g.4710673G>C | GRCh38 |
| NC_000017.10:g.4613968G>C , CM000679.1:g.4613968G>C | GRCh37 |
| NC_000017.9:g.4560717G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269260.7:c.-49G>C MANE Select | ENSP00000269260.2:n.-49G>C | |
| ENST00000269260.6:c.-49G>C | ENSP00000269260.2:n.-49G>C | |
| ENST00000346341.6:c.-49G>C | ENSP00000341895.2:n.-49G>C | |
| ENST00000570718.5:n.42G>C | ||
| ENST00000570739.5:n.42G>C | ||
| ENST00000572457.5:c.-533G>C | ENSP00000465296.1:n.-533G>C | |
| ENST00000574502.5:c.-49G>C | ENSP00000458371.1:n.-49G>C | |
| ENST00000574888.5:n.19G>C | ||
| ENST00000574954.5:c.-594G>C | ENSP00000466344.1:n.-594G>C | |
| ENST00000575131.5:n.13G>C | ||
| NM_001257328.1:c.-49G>C | NP_001244257.1:n.-49G>C | |
| NM_001257329.1:c.-49G>C | NP_001244258.1:n.-49G>C | |
| NM_001257330.1:c.-49G>C | NP_001244259.1:n.-49G>C | |
| NM_001257331.1:c.-49G>C | NP_001244260.1:n.-49G>C | |
| NM_004313.3:c.-49G>C | NP_004304.1:n.-49G>C | |
| NM_199004.1:c.-49G>C | NP_945355.1:n.-49G>C | |
| NR_047516.1:n.180G>C | ||
| XM_006721520.1:c.-549G>C | XP_006721583.1:n.-549G>C | |
| NM_001330064.1:c.-549G>C | NP_001316993.1:n.-549G>C | |
| XM_024450751.1:c.-49G>C | XP_024306519.1:n.-49G>C | |
| XM_024450752.1:c.-594G>C | XP_024306520.1:n.-594G>C | |
| XM_024450753.1:c.-549G>C | XP_024306521.1:n.-549G>C | |
| XR_002958006.1:n.44G>C | ||
| XR_002958007.1:n.44G>C | ||
| NM_004313.4:c.-49G>C MANE Select | NP_004304.1:n.-49G>C | |
| NM_001257328.2:c.-49G>C | NP_001244257.1:n.-49G>C | |
| NM_001257329.2:c.-49G>C | NP_001244258.1:n.-49G>C | |
| NM_001257330.2:c.-49G>C | NP_001244259.1:n.-49G>C | |
| NM_001257331.2:c.-49G>C | NP_001244260.1:n.-49G>C | |
| NM_001330064.2:c.-549G>C | NP_001316993.1:n.-549G>C | |
| NM_199004.2:c.-49G>C | NP_945355.1:n.-49G>C | |
| NR_047516.2:n.42G>C |