Linked Data
dbSNP Id:
rs17833172
gnomAD v2:
4-2868514-G-A
gnomAD v3:
4-2866787-G-A
gnomAD v4:
4-2866787-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.2866787G>A , CM000666.2:g.2866787G>A | GRCh38 |
| NC_000004.11:g.2868514G>A , CM000666.1:g.2868514G>A | GRCh37 |
| NC_000004.10:g.2838312G>A | NCBI36 |
| NG_012037.1:g.27931G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000683351.1:c.-20-9109G>A MANE Select | ENSP00000508142.1:n.-20-9109G>A | |
| ENST00000651918.1:c.-141-6228G>A | ENSP00000498269.1:n.-141-6228G>A | |
| ENST00000264758.11:c.-20-9109G>A | ENSP00000264758.6:n.-20-9109G>A | |
| ENST00000355842.7:c.-178-1185G>A | ENSP00000348100.3:n.-178-1185G>A | |
| ENST00000374281.2:n.322-1185G>A | ||
| ENST00000398125.5:c.-20-9109G>A | ENSP00000381193.1:n.-20-9109G>A | |
| ENST00000446856.5:c.-20-9109G>A | ENSP00000399828.2:n.-20-9109G>A | |
| ENST00000503455.6:c.-20-9109G>A | ENSP00000423024.2:n.-20-9109G>A | |
| ENST00000508277.5:c.-20-9109G>A | ENSP00000426700.1:n.-20-9109G>A | |
| ENST00000508684.5:n.169-9109G>A | ||
| ENST00000509039.5:n.47-9109G>A | ||
| ENST00000510101.5:c.-20-9109G>A | ENSP00000425703.1:n.-20-9109G>A | |
| ENST00000511797.5:c.-178-1185G>A | ENSP00000421918.1:n.-178-1185G>A | |
| ENST00000513328.6:c.-20-9109G>A | ENSP00000421907.2:n.-20-9109G>A | |
| ENST00000540541.1:n.37-9109G>A | ||
| NM_001119.4:c.-20-9109G>A | NP_001110.2:n.-20-9109G>A | |
| NM_001286645.1:c.-178-1185G>A | NP_001273574.1:n.-178-1185G>A | |
| NM_014189.3:c.-20-9109G>A | NP_054908.2:n.-20-9109G>A | |
| NM_014190.3:c.-20-9109G>A | NP_054909.2:n.-20-9109G>A | |
| NM_176801.2:c.-20-9109G>A | NP_789771.1:n.-20-9109G>A | |
| XM_005247933.1:c.-20-9109G>A | XP_005247990.1:n.-20-9109G>A | |
| XM_005247935.1:c.-20-9109G>A | XP_005247992.1:n.-20-9109G>A | |
| XM_005247936.1:c.-20-9109G>A | XP_005247993.1:n.-20-9109G>A | |
| XM_005247937.1:c.-20-9109G>A | XP_005247994.1:n.-20-9109G>A | |
| NM_001354754.1:c.-21+6832G>A | NP_001341683.1:n.-21+6832G>A | |
| NM_001354755.1:c.-20-9109G>A | NP_001341684.1:n.-20-9109G>A | |
| NM_001354756.1:c.-20-9109G>A | NP_001341685.1:n.-20-9109G>A | |
| NM_001354757.1:c.-21+6832G>A | NP_001341686.1:n.-21+6832G>A | |
| NM_001354758.1:c.-20-9109G>A | NP_001341687.1:n.-20-9109G>A | |
| NM_001354759.1:c.-20-9109G>A | NP_001341688.1:n.-20-9109G>A | |
| NM_001354761.1:c.-20-9109G>A | NP_001341690.1:n.-20-9109G>A | |
| NM_001354762.1:c.-20-9109G>A | NP_001341691.1:n.-20-9109G>A | |
| XM_017007703.1:c.-21+6832G>A | XP_016863192.1:n.-21+6832G>A | |
| XR_002959706.1:n.47-9109G>A | ||
| NM_001119.5:c.-20-9109G>A | NP_001110.2:n.-20-9109G>A | |
| NM_001354754.2:c.-21+6832G>A | NP_001341683.1:n.-21+6832G>A | |
| NM_001354756.2:c.-20-9109G>A | NP_001341685.1:n.-20-9109G>A | |
| NM_001354757.2:c.-21+6832G>A | NP_001341686.1:n.-21+6832G>A | |
| NM_001354759.2:c.-20-9109G>A | NP_001341688.1:n.-20-9109G>A | |
| NM_001354761.2:c.-20-9109G>A MANE Select | NP_001341690.1:n.-20-9109G>A | |
| NM_001354762.2:c.-20-9109G>A | NP_001341691.1:n.-20-9109G>A | |
| NM_014190.4:c.-20-9109G>A | NP_054909.2:n.-20-9109G>A | |
| NM_001286645.2:c.-178-1185G>A | NP_001273574.1:n.-178-1185G>A | |
| NM_001354755.2:c.-20-9109G>A | NP_001341684.1:n.-20-9109G>A | |
| NM_001354758.2:c.-20-9109G>A | NP_001341687.1:n.-20-9109G>A | |
| NM_014189.4:c.-20-9109G>A | NP_054908.2:n.-20-9109G>A | |
| NM_176801.3:c.-20-9109G>A | NP_789771.1:n.-20-9109G>A |