Linked Data
dbSNP Id:
rs1195209369
gnomAD v2:
15-50621606-C-T
gnomAD v3:
15-50329409-C-T
gnomAD v4:
15-50329409-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.50329409C>T , CM000677.2:g.50329409C>T | GRCh38 |
| NC_000015.9:g.50621606C>T , CM000677.1:g.50621606C>T | GRCh37 |
| NC_000015.8:g.48408898C>T | NCBI36 |
| NG_029475.1:g.31000G>A | |
| NG_029475.2:g.31000G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380877.8:c.1-19611G>A MANE Select | ENSP00000370259.3:n.1-19611G>A | |
| ENST00000220429.12:c.1-19611G>A | ENSP00000220429.8:n.1-19611G>A | |
| ENST00000359031.8:c.-1+16963G>A | ENSP00000351923.4:n.-1+16963G>A | |
| ENST00000380877.7:c.1-19611G>A | ENSP00000370259.3:n.1-19611G>A | |
| ENST00000396464.7:c.1-19611G>A | ENSP00000379728.3:n.1-19611G>A | |
| ENST00000429662.6:c.1-19611G>A | ENSP00000395771.2:n.1-19611G>A | |
| ENST00000543881.5:c.-120-25276G>A | ENSP00000442500.1:n.-120-25276G>A | |
| ENST00000558970.2:c.-255-14739G>A | ENSP00000454211.1:n.-255-14739G>A | |
| ENST00000560825.5:c.-1+16963G>A | ENSP00000453463.1:n.-1+16963G>A | |
| NM_002041.4:c.1-19611G>A | NP_002032.2:n.1-19611G>A | |
| NM_005254.5:c.1-19611G>A | NP_005245.2:n.1-19611G>A | |
| NM_016654.4:c.1-19611G>A | NP_057738.1:n.1-19611G>A | |
| NM_016655.4:c.1-19611G>A | NP_057739.1:n.1-19611G>A | |
| NM_181427.3:c.-1+16963G>A | NP_852092.1:n.-1+16963G>A | |
| XM_005254273.3:c.-1+16963G>A | XP_005254330.1:n.-1+16963G>A | |
| NM_001320910.1:c.-1+16963G>A | NP_001307839.1:n.-1+16963G>A | |
| NM_001320915.1:c.-1+16963G>A | NP_001307844.1:n.-1+16963G>A | |
| XM_011521426.3:c.1-19611G>A | XP_011519728.1:n.1-19611G>A | |
| XM_017022053.2:c.-1+16963G>A | XP_016877542.1:n.-1+16963G>A | |
| XM_017022054.2:c.-1+16963G>A | XP_016877543.1:n.-1+16963G>A | |
| XM_024449883.1:c.15+11094G>A | XP_024305651.1:n.15+11094G>A | |
| XM_024449884.1:c.15+11094G>A | XP_024305652.1:n.15+11094G>A | |
| XM_024449885.1:c.-60-1972G>A | XP_024305653.1:n.-60-1972G>A | |
| XM_024449886.1:c.1-19611G>A | XP_024305654.1:n.1-19611G>A | |
| XM_024449887.1:c.15+11094G>A | XP_024305655.1:n.15+11094G>A | |
| XM_024449888.1:c.15+11094G>A | XP_024305656.1:n.15+11094G>A | |
| NM_001320910.2:c.-1+16963G>A | NP_001307839.1:n.-1+16963G>A | |
| NM_001320915.2:c.-1+16963G>A | NP_001307844.1:n.-1+16963G>A | |
| NM_005254.6:c.1-19611G>A | NP_005245.2:n.1-19611G>A | |
| NM_016654.5:c.1-19611G>A MANE Select | NP_057738.1:n.1-19611G>A | |
| NM_002041.5:c.1-19611G>A | NP_002032.2:n.1-19611G>A | |
| NM_016655.5:c.1-19611G>A | NP_057739.1:n.1-19611G>A | |
| NM_181427.4:c.-1+16963G>A | NP_852092.1:n.-1+16963G>A |