Linked Data
ClinVar Variation Id:
94
ClinVar RCV Id:
RCV000000114
dbSNP Id:
rs137853596
PubMed:
PMID:11241842
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18059424T>C , CM000670.2:g.18059424T>C | GRCh38 |
| NC_000008.10:g.17916933T>C , CM000670.1:g.17916933T>C | GRCh37 |
| NC_000008.9:g.17961213T>C | NCBI36 |
| NG_008985.1:g.30575A>G | |
| NG_008985.2:g.30575A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381733.9:c.1006A>G | ENSP00000371152.4:p.Asn336Asp | |
| ENST00000518746.2:n.2644A>G | ||
| ENST00000520781.6:c.883A>G | ENSP00000427751.1:p.Asn295Asp | |
| ENST00000635756.1:c.371A>G | ||
| ENST00000635944.1:c.*794A>G | ENSP00000490195.1:n.*794A>G | |
| ENST00000635998.1:c.958A>G | ENSP00000490506.1:p.Asn320Asp | |
| ENST00000636009.1:c.815A>G | ENSP00000489988.1:n.815A>G | |
| ENST00000636033.1:c.*794A>G | ENSP00000489617.1:n.*794A>G | |
| ENST00000636050.1:c.*801A>G | ENSP00000490562.1:n.*801A>G | |
| ENST00000636128.1:c.637A>G | ENSP00000489789.1:p.Asn213Asp | |
| ENST00000636160.1:c.*850A>G | ENSP00000489651.1:n.*850A>G | |
| ENST00000636171.1:c.901A>G | ENSP00000489761.1:p.Asn301Asp | |
| ENST00000636455.1:c.965+148A>G | ENSP00000490502.1:n.965+148A>G | |
| ENST00000636494.1:c.*738A>G | ENSP00000490388.1:n.*738A>G | |
| ENST00000636563.1:n.620A>G | ||
| ENST00000636577.1:c.898A>G | ENSP00000490027.1:p.Asn300Asp | |
| ENST00000636691.1:c.763A>G | ENSP00000490725.1:p.Asn255Asp | |
| ENST00000636701.1:c.*609A>G | ENSP00000489800.1:n.*609A>G | |
| ENST00000636815.1:c.875A>G | ||
| ENST00000636920.1:c.*794A>G | ENSP00000490437.1:n.*794A>G | |
| ENST00000636997.1:c.871A>G | ENSP00000490093.1:p.Asn291Asp | |
| ENST00000637013.1:c.*1326A>G | ENSP00000490596.1:n.*1326A>G | |
| ENST00000637014.1:n.1365A>G | ||
| ENST00000637095.1:c.*738A>G | ENSP00000490415.1:n.*738A>G | |
| ENST00000637244.1:c.*1476A>G | ENSP00000490188.1:n.*1476A>G | |
| ENST00000637343.1:n.2395A>G | ||
| ENST00000637429.1:c.*1170A>G | ENSP00000490522.1:n.*1170A>G | |
| ENST00000637484.1:c.*920A>G | ENSP00000490837.1:n.*920A>G | |
| ENST00000637528.1:c.895A>G | ENSP00000490801.1:p.Asn299Asp | |
| ENST00000637609.1:n.3679A>G | ||
| ENST00000637636.1:c.952A>G | ENSP00000490112.1:p.Asn318Asp | |
| ENST00000637790.2:c.958A>G MANE Select | ENSP00000490272.1:p.Asn320Asp | |
| ENST00000637857.1:n.1324A>G | ||
| ENST00000637922.1:c.763A>G | ENSP00000490071.1:p.Asn255Asp | |
| ENST00000637991.1:c.931A>G | ENSP00000489901.1:p.Asn311Asp | |
| ENST00000638028.1:n.1175A>G | ||
| ENST00000638069.1:n.1779A>G | ||
| ENST00000262097.10:c.958A>G | ENSP00000262097.6:p.Asn320Asp | |
| ENST00000314146.10:c.940A>G | ENSP00000326970.10:p.Asn314Asp | |
| ENST00000381733.8:c.1006A>G | ENSP00000371152.4:p.Asn336Asp | |
| ENST00000520781.5:c.883A>G | ENSP00000427751.1:p.Asn295Asp | |
| NM_001127505.1:c.940A>G | NP_001120977.1:p.Asn314Asp | |
| NM_001127505.2:c.940A>G | NP_001120977.1:p.Asn314Asp | |
| NM_004315.4:c.1006A>G | NP_004306.3:p.Asn336Asp | |
| NM_004315.5:c.1006A>G | NP_004306.3:p.Asn336Asp | |
| NM_177924.3:c.958A>G | NP_808592.2:p.Asn320Asp | |
| NM_177924.4:c.958A>G | NP_808592.2:p.Asn320Asp | |
| XM_005273504.2:c.892A>G | XP_005273561.1:p.Asn298Asp | |
| NM_001363743.1:c.763A>G | NP_001350672.1:p.Asn255Asp | |
| XM_005273504.3:c.892A>G | XP_005273561.1:p.Asn298Asp | |
| NM_177924.5:c.958A>G MANE Select | NP_808592.2:p.Asn320Asp | |
| NM_001127505.3:c.940A>G | NP_001120977.1:p.Asn314Asp | |
| NM_001363743.2:c.763A>G | NP_001350672.1:p.Asn255Asp | |
| NM_004315.6:c.1006A>G | NP_004306.3:p.Asn336Asp |