ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31337583G>T , CM000679.2:g.31337583G>T | GRCh38 |
| NC_000017.10:g.29664601G>T , CM000679.1:g.29664601G>T | GRCh37 |
| NC_000017.9:g.26688727G>T | NCBI36 |
| NG_009018.1:g.247607G>T , LRG_214:g.247607G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.6624+1G>T | ENSP00000512431.1:n.6624+1G>T | |
| ENST00000684826.1:c.1206+1G>T | ENSP00000509994.1:n.1206+1G>T | |
| ENST00000684998.1:n.1521G>T | ||
| ENST00000687027.1:c.798+1G>T | ENSP00000508715.1:n.798+1G>T | |
| ENST00000687863.1:n.3287+1G>T | ||
| ENST00000691014.1:c.6672+1G>T | ENSP00000510595.1:n.6672+1G>T | |
| ENST00000693617.1:c.1206+1G>T | ENSP00000510031.1:n.1206+1G>T | |
| ENST00000358273.9:c.6642+1G>T MANE Select | ENSP00000351015.4:n.6642+1G>T | |
| ENST00000356175.7:c.6579+1G>T | ENSP00000348498.3:n.6579+1G>T | |
| ENST00000358273.8:c.6642+1G>T | ENSP00000351015.4:n.6642+1G>T | |
| ENST00000456735.6:c.5577+1G>T | ENSP00000389907.2:n.5577+1G>T | |
| ENST00000579081.5:c.6778+1G>T | ENSP00000462408.1:n.6778+1G>T | |
| NM_000267.3:c.6579+1G>T , LRG_214t1:c.6579+1G>T | NP_000258.1:n.6579+1G>T | |
| NM_001042492.2:c.6642+1G>T , LRG_214t2:c.6642+1G>T | NP_001035957.1:n.6642+1G>T | |
| XM_005257983.1:c.6642+1G>T | XP_005258040.1:n.6642+1G>T | |
| XM_005257984.1:c.6579+1G>T | XP_005258041.1:n.6579+1G>T | |
| XM_006721922.1:c.6672+1G>T | XP_006721985.1:n.6672+1G>T | |
| XM_006721923.2:c.6633+1G>T | XP_006721986.1:n.6633+1G>T | |
| XM_006721924.1:c.6672+1G>T | XP_006721987.1:n.6672+1G>T | |
| XM_006721925.1:c.6609+1G>T | XP_006721988.1:n.6609+1G>T | |
| XM_006721926.2:c.6672+1G>T | XP_006721989.1:n.6672+1G>T | |
| XM_006721927.1:c.6672+1G>T | XP_006721990.1:n.6672+1G>T | |
| XM_011524852.1:c.6669+1G>T | XP_011523154.1:n.6669+1G>T | |
| XM_011524853.1:c.6633+1G>T | XP_011523155.1:n.6633+1G>T | |
| XM_011524854.1:c.6633+1G>T | XP_011523156.1:n.6633+1G>T | |
| XM_011524855.1:c.6633+1G>T | XP_011523157.1:n.6633+1G>T | |
| XM_011524856.1:c.6633+1G>T | XP_011523158.1:n.6633+1G>T | |
| XM_011524857.1:c.6672+1G>T | XP_011523159.1:n.6672+1G>T | |
| NM_001042492.3:c.6642+1G>T MANE Select | NP_001035957.1:n.6642+1G>T |