Linked Data
ClinVar Variation Id:
3151509
ClinVar RCV Id:
RCV004438377
dbSNP Id:
rs758719561
ExAC:
4:99300258 A / G
gnomAD v2:
4-99300258-A-G
gnomAD v3:
4-98379107-A-G
gnomAD v4:
4-98379107-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.98379107A>G , CM000666.2:g.98379107A>G | GRCh38 |
| NC_000004.11:g.99300258A>G , CM000666.1:g.99300258A>G | GRCh37 |
| NC_000004.10:g.99519281A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000408927.8:c.452A>G MANE Select | ENSP00000386153.4:p.Asn151Ser | |
| ENST00000264572.11:c.365-25370A>G | ENSP00000264572.7:n.365-25370A>G | |
| ENST00000339360.9:c.455A>G | ENSP00000340454.5:p.Asn152Ser | |
| ENST00000380158.8:c.365-12845A>G | ENSP00000369503.4:n.365-12845A>G | |
| ENST00000408900.7:c.362-12845A>G | ENSP00000386223.3:n.362-12845A>G | |
| ENST00000408927.7:c.452A>G | ENSP00000386153.3:p.Asn151Ser | |
| ENST00000453712.6:c.455A>G | ENSP00000407157.2:p.Asn152Ser | |
| ENST00000503745.1:n.180A>G | ||
| ENST00000505378.5:n.584A>G | ||
| ENST00000507303.5:n.518A>G | ||
| ENST00000508213.5:c.329A>G | ENSP00000426096.1:p.Asn110Ser | |
| ENST00000509011.5:c.239-12845A>G | ENSP00000425992.1:n.239-12845A>G | |
| ENST00000509501.5:c.6A>G | ||
| ENST00000510870.5:c.*63-12845A>G | ENSP00000424250.1:n.*63-12845A>G | |
| ENST00000511212.5:c.329A>G | ENSP00000421599.1:p.Asn110Ser | |
| ENST00000511379.5:n.558A>G | ||
| ENST00000512857.5:n.474-8329A>G | ||
| ENST00000514122.5:c.236-12845A>G | ENSP00000424324.1:n.236-12845A>G | |
| NM_001100426.1:c.455A>G | NP_001093896.1:p.Asn152Ser | |
| NM_001100427.1:c.452A>G | NP_001093897.1:p.Asn151Ser | |
| NM_001100428.1:c.365-12845A>G | NP_001093898.1:n.365-12845A>G | |
| NM_001100429.1:c.362-12845A>G | NP_001093899.1:n.362-12845A>G | |
| NM_001100430.1:c.365-25370A>G | NP_001093900.1:n.365-25370A>G | |
| NM_021159.4:c.455A>G | NP_066982.3:p.Asn152Ser | |
| XM_006714284.2:c.212A>G | XP_006714347.1:p.Asn71Ser | |
| XM_006714285.2:c.122-12845A>G | XP_006714348.1:n.122-12845A>G | |
| XM_011532173.1:c.455A>G | XP_011530475.1:p.Asn152Ser | |
| XM_024454164.1:c.452A>G | XP_024309932.1:p.Asn151Ser | |
| XM_024454165.1:c.365-12845A>G | XP_024309933.1:n.365-12845A>G | |
| XM_024454166.1:c.362-12845A>G | XP_024309934.1:n.362-12845A>G | |
| XM_024454167.1:c.212A>G | XP_024309935.1:p.Asn71Ser | |
| XM_024454168.1:c.212A>G | XP_024309936.1:p.Asn71Ser | |
| XM_024454169.1:c.122-12845A>G | XP_024309937.1:n.122-12845A>G | |
| XM_024454170.1:c.122-12845A>G | XP_024309938.1:n.122-12845A>G | |
| XM_024454171.1:c.122-12845A>G | XP_024309939.1:n.122-12845A>G | |
| XM_024454172.1:c.122-12845A>G | XP_024309940.1:n.122-12845A>G | |
| XM_024454173.1:c.122-12845A>G | XP_024309941.1:n.122-12845A>G | |
| XM_024454174.1:c.-151A>G | XP_024309942.1:n.-151A>G | |
| XM_024454175.1:c.-155A>G | XP_024309943.1:n.-155A>G | |
| XM_024454176.1:c.-155A>G | XP_024309944.1:n.-155A>G | |
| XR_002959742.1:n.633A>G | ||
| XR_002959743.1:n.550-12845A>G | ||
| XR_002959744.1:n.547-12845A>G | ||
| NM_001100426.2:c.455A>G | NP_001093896.1:p.Asn152Ser | |
| NM_001100427.2:c.452A>G MANE Select | NP_001093897.1:p.Asn151Ser | |
| NM_001100428.2:c.365-12845A>G | NP_001093898.1:n.365-12845A>G | |
| NM_001100429.2:c.362-12845A>G | NP_001093899.1:n.362-12845A>G | |
| NM_001100430.2:c.365-25370A>G | NP_001093900.1:n.365-25370A>G | |
| NM_021159.5:c.455A>G | NP_066982.3:p.Asn152Ser |