Linked Data
ClinVar Variation Id:
489098
dbSNP Id:
rs1553420848
gnomAD v3:
2-71679193-G-A
gnomAD v4:
2-71679193-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71679193G>A , CM000664.2:g.71679193G>A | GRCh38 |
| NC_000002.11:g.71906323G>A , CM000664.1:g.71906323G>A | GRCh37 |
| NC_000002.10:g.71759831G>A | NCBI36 |
| NG_008694.1:g.230571G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698057.1:c.3435G>A | ENSP00000513536.1:p.Trp1145Ter | |
| ENST00000698058.1:c.2652G>A | ENSP00000513537.1:p.Trp884Ter | |
| ENST00000698059.1:c.2760G>A | ENSP00000513538.1:p.Trp920Ter | |
| ENST00000258104.8:c.5904G>A MANE Plus Clinical | ENSP00000258104.3:p.Trp1968Ter | |
| ENST00000410020.8:c.6021G>A MANE Select | ENSP00000386881.3:p.Trp2007Ter | |
| ENST00000258104.7:c.5904G>A | ENSP00000258104.3:p.Trp1968Ter | |
| ENST00000394120.6:c.5907G>A | ENSP00000377678.2:p.Trp1969Ter | |
| ENST00000409366.5:c.5970G>A | ENSP00000386512.1:p.Trp1990Ter | |
| ENST00000409582.7:c.6018G>A | ENSP00000386547.3:p.Trp2006Ter | |
| ENST00000409651.5:c.6000G>A | ENSP00000386683.1:p.Trp2000Ter | |
| ENST00000409744.5:c.5928G>A | ENSP00000386285.1:p.Trp1976Ter | |
| ENST00000409762.5:c.5955G>A | ENSP00000387137.1:p.Trp1985Ter | |
| ENST00000410020.7:c.6021G>A | ENSP00000386881.3:p.Trp2007Ter | |
| ENST00000410041.1:c.5958G>A | ENSP00000386617.1:p.Trp1986Ter | |
| ENST00000413539.6:c.5997G>A | ENSP00000407046.2:p.Trp1999Ter | |
| ENST00000429174.6:c.5967G>A | ENSP00000398305.2:p.Trp1989Ter | |
| ENST00000479049.6:n.2789G>A | ||
| NM_001130455.1:c.5907G>A | NP_001123927.1:p.Trp1969Ter | |
| NM_001130976.1:c.5862G>A | NP_001124448.1:p.Trp1954Ter | |
| NM_001130977.1:c.5925G>A | NP_001124449.1:p.Trp1975Ter | |
| NM_001130978.1:c.5967G>A | NP_001124450.1:p.Trp1989Ter | |
| NM_001130979.1:c.5997G>A | NP_001124451.1:p.Trp1999Ter | |
| NM_001130980.1:c.5955G>A | NP_001124452.1:p.Trp1985Ter | |
| NM_001130981.1:c.6018G>A | NP_001124453.1:p.Trp2006Ter | |
| NM_001130982.1:c.6000G>A | NP_001124454.1:p.Trp2000Ter | |
| NM_001130983.1:c.5970G>A | NP_001124455.1:p.Trp1990Ter | |
| NM_001130984.1:c.5928G>A | NP_001124456.1:p.Trp1976Ter | |
| NM_001130985.1:c.5958G>A | NP_001124457.1:p.Trp1986Ter | |
| NM_001130986.1:c.5865G>A | NP_001124458.1:p.Trp1955Ter | |
| NM_001130987.1:c.6021G>A | NP_001124459.1:p.Trp2007Ter | |
| NM_003494.3:c.5904G>A | NP_003485.1:p.Trp1968Ter | |
| XM_005264584.3:c.6063G>A | XP_005264641.1:p.Trp2021Ter | |
| XM_005264585.3:c.6060G>A | XP_005264642.1:p.Trp2020Ter | |
| XM_005264584.4:c.6063G>A | XP_005264641.1:p.Trp2021Ter | |
| XM_005264585.5:c.6060G>A | XP_005264642.1:p.Trp2020Ter | |
| NM_001130987.2:c.6021G>A MANE Select | NP_001124459.1:p.Trp2007Ter | |
| NM_001130455.2:c.5907G>A | NP_001123927.1:p.Trp1969Ter | |
| NM_001130976.2:c.5862G>A | NP_001124448.1:p.Trp1954Ter | |
| NM_001130977.2:c.5925G>A | NP_001124449.1:p.Trp1975Ter | |
| NM_001130978.2:c.5967G>A | NP_001124450.1:p.Trp1989Ter | |
| NM_001130979.2:c.5997G>A | NP_001124451.1:p.Trp1999Ter | |
| NM_001130980.2:c.5955G>A | NP_001124452.1:p.Trp1985Ter | |
| NM_001130981.2:c.6018G>A | NP_001124453.1:p.Trp2006Ter | |
| NM_001130982.2:c.6000G>A | NP_001124454.1:p.Trp2000Ter | |
| NM_001130983.2:c.5970G>A | NP_001124455.1:p.Trp1990Ter | |
| NM_001130984.2:c.5928G>A | NP_001124456.1:p.Trp1976Ter | |
| NM_001130985.2:c.5958G>A | NP_001124457.1:p.Trp1986Ter | |
| NM_001130986.2:c.5865G>A | NP_001124458.1:p.Trp1955Ter | |
| NM_003494.4:c.5904G>A MANE Plus Clinical | NP_003485.1:p.Trp1968Ter |