Linked Data
ClinVar Variation Id:
195598
ClinVar RCV Id:
RCV000292466
RCV000328757
RCV000487642
RCV001085988
RCV001563948
RCV001563950
RCV001563949
RCV003416078
dbSNP Id:
rs139754493
ExAC:
2:71780972 A / G
gnomAD v2:
2-71780972-A-G
gnomAD v3:
2-71553842-A-G
gnomAD v4:
2-71553842-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71553842A>G , CM000664.2:g.71553842A>G | GRCh38 |
| NC_000002.11:g.71780972A>G , CM000664.1:g.71780972A>G | GRCh37 |
| NC_000002.10:g.71634480A>G | NCBI36 |
| NG_008694.1:g.105220A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258104.8:c.1966A>G MANE Plus Clinical | ENSP00000258104.3:p.Lys656Glu | |
| ENST00000410020.8:c.2020A>G MANE Select | ENSP00000386881.3:p.Lys674Glu | |
| ENST00000258104.7:c.1966A>G | ENSP00000258104.3:p.Lys656Glu | |
| ENST00000394120.6:c.1969A>G | ENSP00000377678.2:p.Lys657Glu | |
| ENST00000409366.5:c.1969A>G | ENSP00000386512.1:p.Lys657Glu | |
| ENST00000409582.7:c.2017A>G | ENSP00000386547.3:p.Lys673Glu | |
| ENST00000409651.5:c.2062A>G | ENSP00000386683.1:p.Lys688Glu | |
| ENST00000409744.5:c.1927A>G | ENSP00000386285.1:p.Lys643Glu | |
| ENST00000409762.5:c.2017A>G | ENSP00000387137.1:p.Lys673Glu | |
| ENST00000410020.7:c.2020A>G | ENSP00000386881.3:p.Lys674Glu | |
| ENST00000410041.1:c.2020A>G | ENSP00000386617.1:p.Lys674Glu | |
| ENST00000413539.6:c.2059A>G | ENSP00000407046.2:p.Lys687Glu | |
| ENST00000429174.6:c.1966A>G | ENSP00000398305.2:p.Lys656Glu | |
| NM_001130455.1:c.1969A>G | NP_001123927.1:p.Lys657Glu | |
| NM_001130976.1:c.1924A>G | NP_001124448.1:p.Lys642Glu | |
| NM_001130977.1:c.1924A>G | NP_001124449.1:p.Lys642Glu | |
| NM_001130978.1:c.1966A>G | NP_001124450.1:p.Lys656Glu | |
| NM_001130979.1:c.2059A>G | NP_001124451.1:p.Lys687Glu | |
| NM_001130980.1:c.2017A>G | NP_001124452.1:p.Lys673Glu | |
| NM_001130981.1:c.2017A>G | NP_001124453.1:p.Lys673Glu | |
| NM_001130982.1:c.2062A>G | NP_001124454.1:p.Lys688Glu | |
| NM_001130983.1:c.1969A>G | NP_001124455.1:p.Lys657Glu | |
| NM_001130984.1:c.1927A>G | NP_001124456.1:p.Lys643Glu | |
| NM_001130985.1:c.2020A>G | NP_001124457.1:p.Lys674Glu | |
| NM_001130986.1:c.1927A>G | NP_001124458.1:p.Lys643Glu | |
| NM_001130987.1:c.2020A>G | NP_001124459.1:p.Lys674Glu | |
| NM_003494.3:c.1966A>G | NP_003485.1:p.Lys656Glu | |
| XM_005264584.3:c.2062A>G | XP_005264641.1:p.Lys688Glu | |
| XM_005264585.3:c.2059A>G | XP_005264642.1:p.Lys687Glu | |
| XM_005264584.4:c.2062A>G | XP_005264641.1:p.Lys688Glu | |
| XM_005264585.5:c.2059A>G | XP_005264642.1:p.Lys687Glu | |
| XR_001738969.1:n.2220A>G | ||
| NM_001130987.2:c.2020A>G MANE Select | NP_001124459.1:p.Lys674Glu | |
| NM_001130455.2:c.1969A>G | NP_001123927.1:p.Lys657Glu | |
| NM_001130976.2:c.1924A>G | NP_001124448.1:p.Lys642Glu | |
| NM_001130977.2:c.1924A>G | NP_001124449.1:p.Lys642Glu | |
| NM_001130978.2:c.1966A>G | NP_001124450.1:p.Lys656Glu | |
| NM_001130979.2:c.2059A>G | NP_001124451.1:p.Lys687Glu | |
| NM_001130980.2:c.2017A>G | NP_001124452.1:p.Lys673Glu | |
| NM_001130981.2:c.2017A>G | NP_001124453.1:p.Lys673Glu | |
| NM_001130982.2:c.2062A>G | NP_001124454.1:p.Lys688Glu | |
| NM_001130983.2:c.1969A>G | NP_001124455.1:p.Lys657Glu | |
| NM_001130984.2:c.1927A>G | NP_001124456.1:p.Lys643Glu | |
| NM_001130985.2:c.2020A>G | NP_001124457.1:p.Lys674Glu | |
| NM_001130986.2:c.1927A>G | NP_001124458.1:p.Lys643Glu | |
| NM_003494.4:c.1966A>G MANE Plus Clinical | NP_003485.1:p.Lys656Glu |