Linked Data
dbSNP Id:
rs1158970
gnomAD v2:
4-20866469-C-T
gnomAD v3:
4-20864846-C-T
gnomAD v4:
4-20864846-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.20864846C>T , CM000666.2:g.20864846C>T | GRCh38 |
| NC_000004.11:g.20866469C>T , CM000666.1:g.20866469C>T | GRCh37 |
| NC_000004.10:g.20475567C>T | NCBI36 |
| NG_052969.1:g.1088906G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000382149.9:c.113-14179G>A | ENSP00000494651.1:n.113-14179G>A | |
| ENST00000382152.7:c.164-14179G>A MANE Select | ENSP00000371587.2:n.164-14179G>A | |
| ENST00000382148.7:c.89-14179G>A | ENSP00000371583.3:n.89-14179G>A | |
| ENST00000382149.8:n.113-14179G>A | ||
| ENST00000382150.8:c.101-14179G>A | ENSP00000371585.4:n.101-14179G>A | |
| ENST00000382152.6:c.164-14179G>A | ENSP00000371587.2:n.164-14179G>A | |
| ENST00000447367.6:c.62-14179G>A | ENSP00000399080.2:n.62-14179G>A | |
| ENST00000509207.1:c.-23-14179G>A | ENSP00000423257.1:n.-23-14179G>A | |
| ENST00000515373.1:n.108-14183G>A | ||
| ENST00000515786.2:c.174-14179G>A | ENSP00000445321.1:n.174-14179G>A | |
| NM_001035003.1:c.89-14179G>A | NP_001030175.1:n.89-14179G>A | |
| NM_001035004.1:c.-23-14179G>A | NP_001030176.1:n.-23-14179G>A | |
| NM_025221.5:c.164-14179G>A | NP_079497.2:n.164-14179G>A | |
| NM_147181.3:c.62-14179G>A | NP_671710.1:n.62-14179G>A | |
| NM_147182.3:c.-23-14179G>A | NP_671711.1:n.-23-14179G>A | |
| NM_147183.3:c.101-14179G>A | NP_671712.1:n.101-14179G>A | |
| XM_005248190.3:c.113-14179G>A | XP_005248247.1:n.113-14179G>A | |
| XM_011513882.1:c.164-14179G>A | XP_011512184.1:n.164-14179G>A | |
| XM_011513883.1:c.113-14179G>A | XP_011512185.1:n.113-14179G>A | |
| XM_011513884.1:c.101-14179G>A | XP_011512186.1:n.101-14179G>A | |
| XM_011513885.1:c.89-14179G>A | XP_011512187.1:n.89-14179G>A | |
| XM_011513886.1:c.62-14179G>A | XP_011512188.1:n.62-14179G>A | |
| XM_011513887.1:c.-23-14179G>A | XP_011512189.1:n.-23-14179G>A | |
| XM_011513888.1:c.-23-14179G>A | XP_011512190.1:n.-23-14179G>A | |
| XM_011513889.1:c.-23-14179G>A | XP_011512191.1:n.-23-14179G>A | |
| NM_001363504.1:c.113-14179G>A | NP_001350433.1:n.113-14179G>A | |
| XM_011513885.3:c.89-14179G>A | XP_011512187.1:n.89-14179G>A | |
| XM_011513887.2:c.-23-14179G>A | XP_011512189.1:n.-23-14179G>A | |
| XM_017008653.1:c.-23-14179G>A | XP_016864142.1:n.-23-14179G>A | |
| NM_025221.6:c.164-14179G>A MANE Select | NP_079497.2:n.164-14179G>A | |
| NM_001035003.2:c.89-14179G>A | NP_001030175.1:n.89-14179G>A | |
| NM_001035004.2:c.-23-14179G>A | NP_001030176.1:n.-23-14179G>A | |
| NM_001363504.2:c.113-14179G>A | NP_001350433.1:n.113-14179G>A | |
| NM_147181.4:c.62-14179G>A | NP_671710.1:n.62-14179G>A | |
| NM_147182.4:c.-23-14179G>A | NP_671711.1:n.-23-14179G>A |