Linked Data
ClinVar Variation Id:
331965
ClinVar RCV Id:
RCV000276112
RCV000340680
RCV000376885
RCV000375646
RCV000412791
RCV000647772
RCV001001973
dbSNP Id:
rs202235611
ExAC:
2:167085463 A / G
gnomAD v2:
2-167085463-A-G
gnomAD v3:
2-166228953-A-G
gnomAD v4:
2-166228953-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.166228953A>G , CM000664.2:g.166228953A>G | GRCh38 |
| NC_000002.11:g.167085463A>G , CM000664.1:g.167085463A>G | GRCh37 |
| NC_000002.10:g.166793709A>G | NCBI36 |
| NG_012798.1:g.152035T>C , LRG_369:g.152035T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303354.11:c.3944T>C (SCN9A) | ENSP00000304748.7:p.Ile1315Thr | |
| ENST00000409435.6:c.3944T>C (SCN9A) | ENSP00000386330.2:p.Ile1315Thr | |
| ENST00000642356.2:c.3944T>C (SCN9A) MANE Select | ENSP00000495601.1:p.Ile1315Thr | |
| ENST00000644316.1:c.3788T>C (SCN9A) | ENSP00000493939.1:p.Ile1263Thr | |
| ENST00000645907.1:c.3911T>C (SCN9A) | ENSP00000495983.1:p.Ile1304Thr | |
| ENST00000303354.10:c.3944T>C (SCN9A) | ENSP00000304748.7:p.Ile1315Thr | |
| ENST00000409435.5:c.3944T>C (SCN9A) | ENSP00000386330.1:p.Ile1315Thr | |
| ENST00000409672.5:c.3911T>C (SCN9A) | ENSP00000386306.1:p.Ile1304Thr | |
| NM_002977.3:c.3911T>C , LRG_369t1:c.3911T>C (SCN9A) | NP_002968.1:p.Ile1304Thr | |
| NR_110260.1:n.612-19242A>G (SCN1A-AS1) | ||
| XM_005246757.1:c.3944T>C (SCN9A) | XP_005246814.1:p.Ile1315Thr | |
| XM_011511616.1:c.3944T>C (SCN9A) | XP_011509918.1:p.Ile1315Thr | |
| XM_011511617.1:c.3944T>C (SCN9A) | XP_011509919.1:p.Ile1315Thr | |
| XM_011511618.1:c.3911T>C (SCN9A) | XP_011509920.1:p.Ile1304Thr | |
| XM_011511619.1:c.3944T>C (SCN9A) | XP_011509921.1:p.Ile1315Thr | |
| NM_001365536.1:c.3944T>C (SCN9A) MANE Select | NP_001352465.1:p.Ile1315Thr | |
| XM_011511616.3:c.3944T>C (SCN9A) | XP_011509918.1:p.Ile1315Thr | |
| XM_011511617.2:c.3944T>C (SCN9A) | XP_011509919.1:p.Ile1315Thr | |
| XM_011511618.2:c.3911T>C (SCN9A) | XP_011509920.1:p.Ile1304Thr | |
| XM_011511619.2:c.3944T>C (SCN9A) | XP_011509921.1:p.Ile1315Thr | |
| XM_017004668.1:c.3557T>C (SCN9A) | XP_016860157.1:p.Ile1186Thr | |
| XM_017004669.1:c.3200T>C (SCN9A) | XP_016860158.1:p.Ile1067Thr |