Linked Data
ClinVar Variation Id:
351364
ClinVar RCV Id:
RCV002058512
dbSNP Id:
rs6196
ExAC:
5:142661490 A / G
gnomAD v2:
5-142661490-A-G
gnomAD v3:
5-143281925-A-G
gnomAD v4:
5-143281925-A-G
PubMed:
PMID:15212141
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.143281925A>G , CM000667.2:g.143281925A>G | GRCh38 |
| NC_000005.9:g.142661490A>G , CM000667.1:g.142661490A>G | GRCh37 |
| NC_000005.8:g.142641683A>G | NCBI36 |
| NG_009062.1:g.158588T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394464.7:c.2298T>C MANE Select | ENSP00000377977.2:p.Asn766= | |
| ENST00000652686.1:c.2205T>C | ENSP00000498663.1:p.Asn735= | |
| ENST00000231509.7:c.2301T>C | ENSP00000231509.3:p.Asn767= | |
| ENST00000343796.6:c.2298T>C | ENSP00000343205.2:p.Asn766= | |
| ENST00000394464.6:c.2298T>C | ENSP00000377977.2:p.Asn766= | |
| ENST00000394466.6:c.2301T>C | ENSP00000377979.2:p.Asn767= | |
| ENST00000415690.6:c.2181+643T>C | ENSP00000387672.2:n.2181+643T>C | |
| ENST00000424646.6:c.2220T>C | ENSP00000405282.2:p.Asn740= | |
| ENST00000503201.1:c.2298T>C | ENSP00000427672.1:p.Asn766= | |
| ENST00000504572.5:c.2301T>C | ENSP00000422518.1:p.Asn767= | |
| NM_000176.2:c.2298T>C | NP_000167.1:p.Asn766= | |
| NM_001018074.1:c.2298T>C | NP_001018084.1:p.Asn766= | |
| NM_001018075.1:c.2298T>C | NP_001018085.1:p.Asn766= | |
| NM_001018076.1:c.2298T>C | NP_001018086.1:p.Asn766= | |
| NM_001018077.1:c.2298T>C | NP_001018087.1:p.Asn766= | |
| NM_001020825.1:c.2181+643T>C | NP_001018661.1:n.2181+643T>C | |
| NM_001024094.1:c.2301T>C | NP_001019265.1:p.Asn767= | |
| NM_001204258.1:c.2220T>C | NP_001191187.1:p.Asn740= | |
| NM_001204259.1:c.2043T>C | NP_001191188.1:p.Asn681= | |
| NM_001204260.1:c.2031T>C | NP_001191189.1:p.Asn677= | |
| NM_001204261.1:c.2007T>C | NP_001191190.1:p.Asn669= | |
| NM_001204262.1:c.1353T>C | NP_001191191.1:p.Asn451= | |
| NM_001204263.1:c.1308T>C | NP_001191192.1:p.Asn436= | |
| NM_001204264.1:c.1293T>C | NP_001191193.1:p.Asn431= | |
| XM_005268419.2:c.2301T>C | XP_005268476.1:p.Asn767= | |
| XM_005268420.3:c.2301T>C | XP_005268477.1:p.Asn767= | |
| XM_005268422.2:c.2301T>C | XP_005268479.1:p.Asn767= | |
| XM_005268423.2:c.2301T>C | XP_005268480.1:p.Asn767= | |
| XM_011537637.1:c.1107T>C | XP_011535939.1:p.Asn369= | |
| XR_944371.1:n.656-2774A>G | ||
| NR_157096.1:n.1221T>C | ||
| XM_005268419.4:c.2301T>C | XP_005268476.1:p.Asn767= | |
| XM_005268420.4:c.2301T>C | XP_005268477.1:p.Asn767= | |
| XM_005268422.3:c.2301T>C | XP_005268479.1:p.Asn767= | |
| XM_005268423.3:c.2301T>C | XP_005268480.1:p.Asn767= | |
| XM_011537637.3:c.1107T>C | XP_011535939.1:p.Asn369= | |
| XM_017009397.1:c.2298T>C | XP_016864886.1:p.Asn766= | |
| XM_017009398.1:c.2298T>C | XP_016864887.1:p.Asn766= | |
| NM_000176.3:c.2298T>C MANE Select | NP_000167.1:p.Asn766= | |
| NM_001364180.1:c.2298T>C | NP_001351109.1:p.Asn766= | |
| NM_001364181.1:c.2298T>C | NP_001351110.1:p.Asn766= | |
| NM_001364182.1:c.2298T>C | NP_001351111.1:p.Asn766= | |
| NM_001364183.1:c.2301T>C | NP_001351112.1:p.Asn767= | |
| NM_001364184.1:c.2301T>C | NP_001351113.1:p.Asn767= | |
| NM_001364185.1:c.2301T>C | NP_001351114.1:p.Asn767= | |
| NM_001018076.2:c.2298T>C | NP_001018086.1:p.Asn766= | |
| NM_001020825.2:c.2181+643T>C | NP_001018661.1:n.2181+643T>C | |
| NM_001024094.2:c.2301T>C | NP_001019265.1:p.Asn767= | |
| NM_001204258.2:c.2220T>C | NP_001191187.1:p.Asn740= | |
| NM_001204259.2:c.2043T>C | NP_001191188.1:p.Asn681= | |
| NM_001204260.2:c.2031T>C | NP_001191189.1:p.Asn677= | |
| NM_001204261.2:c.2007T>C | NP_001191190.1:p.Asn669= | |
| NM_001204262.2:c.1353T>C | NP_001191191.1:p.Asn451= | |
| NM_001204263.2:c.1308T>C | NP_001191192.1:p.Asn436= | |
| NM_001204264.2:c.1293T>C | NP_001191193.1:p.Asn431= | |
| NM_001364180.2:c.2298T>C | NP_001351109.1:p.Asn766= | |
| NM_001364181.2:c.2298T>C | NP_001351110.1:p.Asn766= | |
| NM_001364183.2:c.2301T>C | NP_001351112.1:p.Asn767= | |
| NM_001364184.2:c.2301T>C | NP_001351113.1:p.Asn767= | |
| NR_157096.2:n.1221T>C |