Linked Data
dbSNP Id:
rs777635529
ExAC:
4:23815890 C / T
gnomAD v2:
4-23815890-C-T
gnomAD v4:
4-23814267-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.23814267C>T , CM000666.2:g.23814267C>T | GRCh38 |
| NC_000004.11:g.23815890C>T , CM000666.1:g.23815890C>T | GRCh37 |
| NC_000004.10:g.23424988C>T | NCBI36 |
| NG_028250.1:g.80811G>A | |
| NG_028250.2:g.663709G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264867.7:c.1216G>A MANE Select | ENSP00000264867.2:p.Asp406Asn | |
| ENST00000264867.6:c.1216G>A | ENSP00000264867.2:p.Asp406Asn | |
| ENST00000506055.5:c.*431G>A | ENSP00000423075.1:n.*431G>A | |
| ENST00000509702.5:n.1256G>A | ||
| ENST00000613098.4:c.835G>A | ENSP00000481498.1:p.Asp279Asn | |
| NM_013261.3:c.1216G>A | NP_037393.1:p.Asp406Asn | |
| XM_005248130.2:c.1231G>A | XP_005248187.1:p.Asp411Asn | |
| XM_005248131.3:c.1228G>A | XP_005248188.1:p.Asp410Asn | |
| XM_005248132.1:c.1207G>A | XP_005248189.1:p.Asp403Asn | |
| XM_005248134.3:c.1231G>A | XP_005248191.1:p.Asp411Asn | |
| XM_011513764.1:c.1216G>A | XP_011512066.1:p.Asp406Asn | |
| XM_011513765.1:c.1180G>A | XP_011512067.1:p.Asp394Asn | |
| XM_011513766.1:c.1111G>A | XP_011512068.1:p.Asp371Asn | |
| XM_011513767.1:c.1111G>A | XP_011512069.1:p.Asp371Asn | |
| XM_011513768.1:c.1111G>A | XP_011512070.1:p.Asp371Asn | |
| XM_011513769.1:c.1231G>A | XP_011512071.1:p.Asp411Asn | |
| XM_011513770.1:c.835G>A | XP_011512072.1:p.Asp279Asn | |
| XM_011513771.1:c.835G>A | XP_011512073.1:p.Asp279Asn | |
| NM_001330751.1:c.1231G>A | NP_001317680.1:p.Asp411Asn | |
| NM_001330752.1:c.1180G>A | NP_001317681.1:p.Asp394Asn | |
| NM_001330753.1:c.835G>A | NP_001317682.1:p.Asp279Asn | |
| NM_001354825.1:c.1231G>A | NP_001341754.1:p.Asp411Asn | |
| NM_001354826.1:c.835G>A | NP_001341755.1:p.Asp279Asn | |
| NM_001354827.1:c.1231G>A | NP_001341756.1:p.Asp411Asn | |
| NM_013261.4:c.1216G>A | NP_037393.1:p.Asp406Asn | |
| NR_148981.1:n.1743G>A | ||
| NR_148982.1:n.1816G>A | ||
| NR_148983.1:n.1969G>A | ||
| NR_148984.1:n.1367G>A | ||
| NR_148985.1:n.1881G>A | ||
| NR_148986.1:n.1886G>A | ||
| NR_148987.1:n.1968G>A | ||
| XM_005248131.5:c.1228G>A | XP_005248188.1:p.Asp410Asn | |
| XM_005248134.4:c.1231G>A | XP_005248191.1:p.Asp411Asn | |
| XM_011513769.2:c.1231G>A | XP_011512071.1:p.Asp411Asn | |
| XM_024453878.1:c.1231G>A | XP_024309646.1:p.Asp411Asn | |
| NM_013261.5:c.1216G>A MANE Select | NP_037393.1:p.Asp406Asn | |
| NM_001330751.2:c.1231G>A | NP_001317680.1:p.Asp411Asn | |
| NM_001330752.2:c.1180G>A | NP_001317681.1:p.Asp394Asn | |
| NM_001354825.2:c.1231G>A | NP_001341754.1:p.Asp411Asn | |
| NM_001354826.2:c.835G>A | NP_001341755.1:p.Asp279Asn | |
| NM_001354827.2:c.1231G>A | NP_001341756.1:p.Asp411Asn | |
| NR_148981.2:n.1819G>A | ||
| NR_148982.2:n.1892G>A | ||
| NR_148983.2:n.2045G>A | ||
| NR_148984.2:n.1337G>A | ||
| NR_148985.2:n.1957G>A | ||
| NR_148986.2:n.1962G>A | ||
| NR_148987.2:n.2044G>A | ||
| NM_001330753.2:c.835G>A | NP_001317682.1:p.Asp279Asn |