Linked Data
dbSNP Id:
rs763522794
ExAC:
4:23815784 C / A
gnomAD v2:
4-23815784-C-A
gnomAD v4:
4-23814161-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.23814161C>A , CM000666.2:g.23814161C>A | GRCh38 |
| NC_000004.11:g.23815784C>A , CM000666.1:g.23815784C>A | GRCh37 |
| NC_000004.10:g.23424882C>A | NCBI36 |
| NG_028250.1:g.80917G>T | |
| NG_028250.2:g.663815G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264867.7:c.1322G>T MANE Select | ENSP00000264867.2:p.Ser441Ile | |
| ENST00000264867.6:c.1322G>T | ENSP00000264867.2:p.Ser441Ile | |
| ENST00000506055.5:c.*537G>T | ENSP00000423075.1:n.*537G>T | |
| ENST00000509702.5:n.1362G>T | ||
| ENST00000613098.4:c.941G>T | ENSP00000481498.1:p.Ser314Ile | |
| NM_013261.3:c.1322G>T | NP_037393.1:p.Ser441Ile | |
| XM_005248130.2:c.1337G>T | XP_005248187.1:p.Ser446Ile | |
| XM_005248131.3:c.1334G>T | XP_005248188.1:p.Ser445Ile | |
| XM_005248132.1:c.1313G>T | XP_005248189.1:p.Ser438Ile | |
| XM_005248134.3:c.1337G>T | XP_005248191.1:p.Ser446Ile | |
| XM_011513764.1:c.1322G>T | XP_011512066.1:p.Ser441Ile | |
| XM_011513765.1:c.1286G>T | XP_011512067.1:p.Ser429Ile | |
| XM_011513766.1:c.1217G>T | XP_011512068.1:p.Ser406Ile | |
| XM_011513767.1:c.1217G>T | XP_011512069.1:p.Ser406Ile | |
| XM_011513768.1:c.1217G>T | XP_011512070.1:p.Ser406Ile | |
| XM_011513769.1:c.1337G>T | XP_011512071.1:p.Ser446Ile | |
| XM_011513770.1:c.941G>T | XP_011512072.1:p.Ser314Ile | |
| XM_011513771.1:c.941G>T | XP_011512073.1:p.Ser314Ile | |
| NM_001330751.1:c.1337G>T | NP_001317680.1:p.Ser446Ile | |
| NM_001330752.1:c.1286G>T | NP_001317681.1:p.Ser429Ile | |
| NM_001330753.1:c.941G>T | NP_001317682.1:p.Ser314Ile | |
| NM_001354825.1:c.1337G>T | NP_001341754.1:p.Ser446Ile | |
| NM_001354826.1:c.941G>T | NP_001341755.1:p.Ser314Ile | |
| NM_001354827.1:c.1337G>T | NP_001341756.1:p.Ser446Ile | |
| NM_013261.4:c.1322G>T | NP_037393.1:p.Ser441Ile | |
| NR_148981.1:n.1849G>T | ||
| NR_148982.1:n.1922G>T | ||
| NR_148983.1:n.2075G>T | ||
| NR_148984.1:n.1473G>T | ||
| NR_148985.1:n.1987G>T | ||
| NR_148986.1:n.1992G>T | ||
| NR_148987.1:n.2074G>T | ||
| XM_005248131.5:c.1334G>T | XP_005248188.1:p.Ser445Ile | |
| XM_005248134.4:c.1337G>T | XP_005248191.1:p.Ser446Ile | |
| XM_011513769.2:c.1337G>T | XP_011512071.1:p.Ser446Ile | |
| XM_024453878.1:c.1337G>T | XP_024309646.1:p.Ser446Ile | |
| NM_013261.5:c.1322G>T MANE Select | NP_037393.1:p.Ser441Ile | |
| NM_001330751.2:c.1337G>T | NP_001317680.1:p.Ser446Ile | |
| NM_001330752.2:c.1286G>T | NP_001317681.1:p.Ser429Ile | |
| NM_001354825.2:c.1337G>T | NP_001341754.1:p.Ser446Ile | |
| NM_001354826.2:c.941G>T | NP_001341755.1:p.Ser314Ile | |
| NM_001354827.2:c.1337G>T | NP_001341756.1:p.Ser446Ile | |
| NR_148981.2:n.1925G>T | ||
| NR_148982.2:n.1998G>T | ||
| NR_148983.2:n.2151G>T | ||
| NR_148984.2:n.1443G>T | ||
| NR_148985.2:n.2063G>T | ||
| NR_148986.2:n.2068G>T | ||
| NR_148987.2:n.2150G>T | ||
| NM_001330753.2:c.941G>T | NP_001317682.1:p.Ser314Ile |