Linked Data
ClinVar Variation Id:
2845478
ClinVar RCV Id:
RCV003632032
dbSNP Id:
rs1554686008
gnomAD v2:
7-73477499-G-T
gnomAD v3:
7-74063169-G-T
gnomAD v4:
7-74063169-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.74063169G>T , CM000669.2:g.74063169G>T | GRCh38 |
| NC_000007.13:g.73477499G>T , CM000669.1:g.73477499G>T | GRCh37 |
| NC_000007.12:g.73115435G>T | NCBI36 |
| NG_009261.1:g.40073G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000692049.1:c.1989G>T | ENSP00000510104.1:p.Gly663= | |
| ENST00000252034.12:c.1803G>T MANE Select | ENSP00000252034.7:p.Gly601= | |
| ENST00000252034.11:c.1803G>T | ENSP00000252034.7:p.Gly601= | |
| ENST00000320399.10:c.1902G>T | ENSP00000313565.6:p.Gly634= | |
| ENST00000320492.11:c.1560G>T | ENSP00000315607.7:p.Gly520= | |
| ENST00000357036.9:c.1818G>T | ENSP00000349540.5:p.Gly606= | |
| ENST00000358929.8:c.1989G>T | ENSP00000351807.5:p.Gly663= | |
| ENST00000380553.8:c.1395G>T | ENSP00000369926.4:p.Gly465= | |
| ENST00000380562.8:c.1821G>T | ENSP00000369936.4:p.Gly607= | |
| ENST00000380575.8:c.1716G>T | ENSP00000369949.4:p.Gly572= | |
| ENST00000380576.9:c.1746G>T | ENSP00000369950.5:p.Gly582= | |
| ENST00000380584.8:c.1659G>T | ENSP00000369958.4:p.Gly553= | |
| ENST00000414324.5:c.1731G>T | ENSP00000392575.1:p.Gly577= | |
| ENST00000429192.5:c.1761G>T | ENSP00000391129.1:p.Gly587= | |
| ENST00000445912.5:c.1803G>T | ENSP00000389857.1:p.Gly601= | |
| ENST00000458204.5:c.1773G>T | ENSP00000403162.1:p.Gly591= | |
| ENST00000621115.4:c.1536G>T | ENSP00000480955.1:p.Gly512= | |
| NM_000501.3:c.1803G>T | NP_000492.2:p.Gly601= | |
| NM_001081752.2:c.1716G>T | NP_001075221.1:p.Gly572= | |
| NM_001081753.2:c.1761G>T | NP_001075222.1:p.Gly587= | |
| NM_001081754.2:c.1818G>T | NP_001075223.1:p.Gly606= | |
| NM_001081755.2:c.1746G>T | NP_001075224.1:p.Gly582= | |
| NM_001278912.1:c.1803G>T | NP_001265841.1:p.Gly601= | |
| NM_001278913.1:c.1560G>T | NP_001265842.1:p.Gly520= | |
| NM_001278914.1:c.1731G>T | NP_001265843.1:p.Gly577= | |
| NM_001278915.1:c.1821G>T | NP_001265844.1:p.Gly607= | |
| NM_001278916.1:c.1659G>T | NP_001265845.1:p.Gly553= | |
| NM_001278917.1:c.1773G>T | NP_001265846.1:p.Gly591= | |
| NM_001278918.1:c.1536G>T | NP_001265847.1:p.Gly512= | |
| NM_001278939.1:c.1989G>T | NP_001265868.1:p.Gly663= | |
| XM_005250187.1:c.1767G>T | XP_005250244.1:p.Gly589= | |
| XM_005250188.1:c.1761G>T | XP_005250245.1:p.Gly587= | |
| XM_011515868.1:c.1818G>T | XP_011514170.1:p.Gly606= | |
| XM_011515869.1:c.1788G>T | XP_011514171.1:p.Gly596= | |
| XM_011515870.1:c.1782G>T | XP_011514172.1:p.Gly594= | |
| XM_011515871.1:c.1776G>T | XP_011514173.1:p.Gly592= | |
| XM_011515872.1:c.1764G>T | XP_011514174.1:p.Gly588= | |
| XM_011515873.1:c.1761G>T | XP_011514175.1:p.Gly587= | |
| XM_011515874.1:c.1752G>T | XP_011514176.1:p.Gly584= | |
| XM_011515875.1:c.1737G>T | XP_011514177.1:p.Gly579= | |
| XM_011515876.1:c.1818G>T | XP_011514178.1:p.Gly606= | |
| XM_011515877.1:c.1707G>T | XP_011514179.1:p.Gly569= | |
| XM_005250187.2:c.1767G>T | XP_005250244.1:p.Gly589= | |
| XM_005250188.2:c.1761G>T | XP_005250245.1:p.Gly587= | |
| XM_011515868.2:c.1818G>T | XP_011514170.1:p.Gly606= | |
| XM_011515871.2:c.1776G>T | XP_011514173.1:p.Gly592= | |
| XM_011515872.2:c.1764G>T | XP_011514174.1:p.Gly588= | |
| XM_011515873.2:c.1761G>T | XP_011514175.1:p.Gly587= | |
| XM_011515875.2:c.1737G>T | XP_011514177.1:p.Gly579= | |
| XM_011515876.2:c.1818G>T | XP_011514178.1:p.Gly606= | |
| XM_011515877.2:c.1707G>T | XP_011514179.1:p.Gly569= | |
| XM_017011813.1:c.1731G>T | XP_016867302.1:p.Gly577= | |
| XM_017011814.2:c.1719G>T | XP_016867303.1:p.Gly573= | |
| NM_000501.4:c.1803G>T MANE Select | NP_000492.2:p.Gly601= | |
| NM_001081752.3:c.1716G>T | NP_001075221.1:p.Gly572= | |
| NM_001081753.3:c.1761G>T | NP_001075222.1:p.Gly587= | |
| NM_001081754.3:c.1818G>T | NP_001075223.1:p.Gly606= | |
| NM_001081755.3:c.1746G>T | NP_001075224.1:p.Gly582= | |
| NM_001278912.2:c.1803G>T | NP_001265841.1:p.Gly601= | |
| NM_001278913.2:c.1560G>T | NP_001265842.1:p.Gly520= | |
| NM_001278914.2:c.1731G>T | NP_001265843.1:p.Gly577= | |
| NM_001278915.2:c.1821G>T | NP_001265844.1:p.Gly607= | |
| NM_001278916.2:c.1659G>T | NP_001265845.1:p.Gly553= | |
| NM_001278917.2:c.1773G>T | NP_001265846.1:p.Gly591= | |
| NM_001278918.2:c.1536G>T | NP_001265847.1:p.Gly512= | |
| NM_001278939.2:c.1989G>T | NP_001265868.1:p.Gly663= |