Linked Data
dbSNP Id:
rs17695092
gnomAD v2:
5-173337853-T-G
gnomAD v3:
5-173910850-T-G
gnomAD v4:
5-173910850-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.173910850T>G , CM000667.2:g.173910850T>G | GRCh38 |
| NC_000005.9:g.173337853T>G , CM000667.1:g.173337853T>G | GRCh37 |
| NC_000005.8:g.173270459T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265085.10:c.1207+246T>G MANE Select | ENSP00000265085.5:n.1207+246T>G | |
| ENST00000265085.9:c.1207+246T>G | ENSP00000265085.5:n.1207+246T>G | |
| ENST00000334035.9:c.1207+246T>G | ENSP00000334533.5:n.1207+246T>G | |
| ENST00000517880.1:c.61+246T>G | ENSP00000427990.1:n.61+246T>G | |
| ENST00000519152.5:c.264+246T>G | ||
| ENST00000519835.5:c.1207+246T>G | ENSP00000429048.1:n.1207+246T>G | |
| ENST00000520867.5:c.1207+246T>G | ENSP00000429092.1:n.1207+246T>G | |
| ENST00000522336.5:c.61+246T>G | ENSP00000430345.1:n.61+246T>G | |
| NM_001308189.1:c.1207+246T>G | NP_001295118.1:n.1207+246T>G | |
| NM_001308191.1:c.1207+246T>G | NP_001295120.1:n.1207+246T>G | |
| NM_001308192.1:c.61+246T>G | NP_001295121.1:n.61+246T>G | |
| NM_001308193.1:c.61+246T>G | NP_001295122.1:n.61+246T>G | |
| NM_030627.2:c.1207+246T>G | NP_085130.2:n.1207+246T>G | |
| NM_030627.3:c.1207+246T>G | NP_085130.2:n.1207+246T>G | |
| XM_005265994.1:c.1207+246T>G | XP_005266051.1:n.1207+246T>G | |
| XM_011534660.1:c.1207+246T>G | XP_011532962.1:n.1207+246T>G | |
| XM_011534661.1:c.1207+246T>G | XP_011532963.1:n.1207+246T>G | |
| XM_011534660.2:c.1207+246T>G | XP_011532962.1:n.1207+246T>G | |
| XM_011534661.2:c.1207+246T>G | XP_011532963.1:n.1207+246T>G | |
| NM_030627.4:c.1207+246T>G MANE Select | NP_085130.2:n.1207+246T>G | |
| NM_001308189.2:c.1207+246T>G | NP_001295118.1:n.1207+246T>G | |
| NM_001308191.2:c.1207+246T>G | NP_001295120.1:n.1207+246T>G | |
| NM_001308192.2:c.61+246T>G | NP_001295121.1:n.61+246T>G | |
| NM_001308193.2:c.61+246T>G | NP_001295122.1:n.61+246T>G |