Linked Data
dbSNP Id:
rs1430574946
gnomAD v2:
4-23854917-A-T
gnomAD v3:
4-23853294-A-T
gnomAD v4:
4-23853294-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.23853294A>T , CM000666.2:g.23853294A>T | GRCh38 |
| NC_000004.11:g.23854917A>T , CM000666.1:g.23854917A>T | GRCh37 |
| NC_000004.10:g.23464015A>T | NCBI36 |
| NG_028250.1:g.41784T>A | |
| NG_028250.2:g.624682T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264867.7:c.235-21543T>A MANE Select | ENSP00000264867.2:n.235-21543T>A | |
| ENST00000264867.6:c.235-21543T>A | ENSP00000264867.2:n.235-21543T>A | |
| ENST00000506055.5:c.235-21543T>A | ENSP00000423075.1:n.235-21543T>A | |
| ENST00000507342.5:n.315-21543T>A | ||
| ENST00000508380.1:n.155-21543T>A | ||
| ENST00000509642.5:n.328-21543T>A | ||
| ENST00000509702.5:n.192-21543T>A | ||
| ENST00000512169.1:n.328-21543T>A | ||
| ENST00000513205.5:c.235-21543T>A | ENSP00000421632.1:n.235-21543T>A | |
| ENST00000612355.1:c.223-21543T>A | ENSP00000479729.1:n.223-21543T>A | |
| ENST00000613098.4:c.-147-21543T>A | ENSP00000481498.1:n.-147-21543T>A | |
| ENST00000617484.4:c.223-21543T>A | ENSP00000477921.1:n.223-21543T>A | |
| NM_013261.3:c.235-21543T>A | NP_037393.1:n.235-21543T>A | |
| XM_005248130.2:c.250-21543T>A | XP_005248187.1:n.250-21543T>A | |
| XM_005248131.3:c.247-21543T>A | XP_005248188.1:n.247-21543T>A | |
| XM_005248132.1:c.226-21543T>A | XP_005248189.1:n.226-21543T>A | |
| XM_005248134.3:c.250-21543T>A | XP_005248191.1:n.250-21543T>A | |
| XM_011513764.1:c.235-21543T>A | XP_011512066.1:n.235-21543T>A | |
| XM_011513765.1:c.199-21543T>A | XP_011512067.1:n.199-21543T>A | |
| XM_011513766.1:c.130-21543T>A | XP_011512068.1:n.130-21543T>A | |
| XM_011513767.1:c.130-21543T>A | XP_011512069.1:n.130-21543T>A | |
| XM_011513768.1:c.130-21543T>A | XP_011512070.1:n.130-21543T>A | |
| XM_011513769.1:c.250-21543T>A | XP_011512071.1:n.250-21543T>A | |
| XM_011513770.1:c.-147-21543T>A | XP_011512072.1:n.-147-21543T>A | |
| XM_011513771.1:c.-147-21543T>A | XP_011512073.1:n.-147-21543T>A | |
| NM_001330751.1:c.250-21543T>A | NP_001317680.1:n.250-21543T>A | |
| NM_001330752.1:c.199-21543T>A | NP_001317681.1:n.199-21543T>A | |
| NM_001330753.1:c.-147-21543T>A | NP_001317682.1:n.-147-21543T>A | |
| NM_001354825.1:c.250-21543T>A | NP_001341754.1:n.250-21543T>A | |
| NM_001354826.1:c.-147-21543T>A | NP_001341755.1:n.-147-21543T>A | |
| NM_001354827.1:c.250-21543T>A | NP_001341756.1:n.250-21543T>A | |
| NM_013261.4:c.235-21543T>A | NP_037393.1:n.235-21543T>A | |
| NR_148981.1:n.701-21543T>A | ||
| NR_148982.1:n.804-21543T>A | ||
| NR_148983.1:n.957-21543T>A | ||
| NR_148984.1:n.355-21543T>A | ||
| NR_148985.1:n.869-21543T>A | ||
| NR_148986.1:n.701-21543T>A | ||
| NR_148987.1:n.701-21543T>A | ||
| XM_005248131.5:c.247-21543T>A | XP_005248188.1:n.247-21543T>A | |
| XM_005248134.4:c.250-21543T>A | XP_005248191.1:n.250-21543T>A | |
| XM_011513769.2:c.250-21543T>A | XP_011512071.1:n.250-21543T>A | |
| XM_024453878.1:c.250-21543T>A | XP_024309646.1:n.250-21543T>A | |
| NM_013261.5:c.235-21543T>A MANE Select | NP_037393.1:n.235-21543T>A | |
| NM_001330751.2:c.250-21543T>A | NP_001317680.1:n.250-21543T>A | |
| NM_001330752.2:c.199-21543T>A | NP_001317681.1:n.199-21543T>A | |
| NM_001354825.2:c.250-21543T>A | NP_001341754.1:n.250-21543T>A | |
| NM_001354826.2:c.-147-21543T>A | NP_001341755.1:n.-147-21543T>A | |
| NM_001354827.2:c.250-21543T>A | NP_001341756.1:n.250-21543T>A | |
| NR_148981.2:n.777-21543T>A | ||
| NR_148982.2:n.880-21543T>A | ||
| NR_148983.2:n.1033-21543T>A | ||
| NR_148984.2:n.325-21543T>A | ||
| NR_148985.2:n.945-21543T>A | ||
| NR_148986.2:n.777-21543T>A | ||
| NR_148987.2:n.777-21543T>A | ||
| NM_001330753.2:c.-147-21543T>A | NP_001317682.1:n.-147-21543T>A |