Linked Data
ClinVar Variation Id:
360660
dbSNP Id:
rs536177240
ExAC:
7:73477690 G / A
gnomAD v2:
7-73477690-G-A
gnomAD v3:
7-74063360-G-A
gnomAD v4:
7-74063360-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.74063360G>A , CM000669.2:g.74063360G>A | GRCh38 |
| NC_000007.13:g.73477690G>A , CM000669.1:g.73477690G>A | GRCh37 |
| NC_000007.12:g.73115626G>A | NCBI36 |
| NG_009261.1:g.40264G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000692049.1:c.2095G>A | ENSP00000510104.1:p.Ala699Thr | |
| ENST00000252034.12:c.1909G>A MANE Select | ENSP00000252034.7:p.Ala637Thr | |
| ENST00000252034.11:c.1909G>A | ENSP00000252034.7:p.Ala637Thr | |
| ENST00000320399.10:c.2008G>A | ENSP00000313565.6:p.Ala670Thr | |
| ENST00000320492.11:c.1666G>A | ENSP00000315607.7:p.Ala556Thr | |
| ENST00000357036.9:c.1924G>A | ENSP00000349540.5:p.Ala642Thr | |
| ENST00000358929.8:c.2095G>A | ENSP00000351807.5:p.Ala699Thr | |
| ENST00000380553.8:c.1501G>A | ENSP00000369926.4:p.Ala501Thr | |
| ENST00000380562.8:c.1927G>A | ENSP00000369936.4:p.Ala643Thr | |
| ENST00000380575.8:c.1822G>A | ENSP00000369949.4:p.Ala608Thr | |
| ENST00000380576.9:c.1852G>A | ENSP00000369950.5:p.Ala618Thr | |
| ENST00000380584.8:c.1765G>A | ENSP00000369958.4:p.Ala589Thr | |
| ENST00000414324.5:c.1837G>A | ENSP00000392575.1:p.Ala613Thr | |
| ENST00000429192.5:c.1867G>A | ENSP00000391129.1:p.Ala623Thr | |
| ENST00000445912.5:c.1909G>A | ENSP00000389857.1:p.Ala637Thr | |
| ENST00000458204.5:c.1879G>A | ENSP00000403162.1:p.Ala627Thr | |
| ENST00000621115.4:c.1642G>A | ENSP00000480955.1:p.Ala548Thr | |
| NM_000501.3:c.1909G>A | NP_000492.2:p.Ala637Thr | |
| NM_001081752.2:c.1822G>A | NP_001075221.1:p.Ala608Thr | |
| NM_001081753.2:c.1867G>A | NP_001075222.1:p.Ala623Thr | |
| NM_001081754.2:c.1924G>A | NP_001075223.1:p.Ala642Thr | |
| NM_001081755.2:c.1852G>A | NP_001075224.1:p.Ala618Thr | |
| NM_001278912.1:c.1909G>A | NP_001265841.1:p.Ala637Thr | |
| NM_001278913.1:c.1666G>A | NP_001265842.1:p.Ala556Thr | |
| NM_001278914.1:c.1837G>A | NP_001265843.1:p.Ala613Thr | |
| NM_001278915.1:c.1927G>A | NP_001265844.1:p.Ala643Thr | |
| NM_001278916.1:c.1765G>A | NP_001265845.1:p.Ala589Thr | |
| NM_001278917.1:c.1879G>A | NP_001265846.1:p.Ala627Thr | |
| NM_001278918.1:c.1642G>A | NP_001265847.1:p.Ala548Thr | |
| NM_001278939.1:c.2095G>A | NP_001265868.1:p.Ala699Thr | |
| XM_005250187.1:c.1873G>A | XP_005250244.1:p.Ala625Thr | |
| XM_005250188.1:c.1867G>A | XP_005250245.1:p.Ala623Thr | |
| XM_011515868.1:c.1924G>A | XP_011514170.1:p.Ala642Thr | |
| XM_011515869.1:c.1894G>A | XP_011514171.1:p.Ala632Thr | |
| XM_011515870.1:c.1888G>A | XP_011514172.1:p.Ala630Thr | |
| XM_011515871.1:c.1882G>A | XP_011514173.1:p.Ala628Thr | |
| XM_011515872.1:c.1870G>A | XP_011514174.1:p.Ala624Thr | |
| XM_011515873.1:c.1867G>A | XP_011514175.1:p.Ala623Thr | |
| XM_011515874.1:c.1858G>A | XP_011514176.1:p.Ala620Thr | |
| XM_011515875.1:c.1843G>A | XP_011514177.1:p.Ala615Thr | |
| XM_011515876.1:c.1924G>A | XP_011514178.1:p.Ala642Thr | |
| XM_011515877.1:c.1813G>A | XP_011514179.1:p.Ala605Thr | |
| XM_005250187.2:c.1873G>A | XP_005250244.1:p.Ala625Thr | |
| XM_005250188.2:c.1867G>A | XP_005250245.1:p.Ala623Thr | |
| XM_011515868.2:c.1924G>A | XP_011514170.1:p.Ala642Thr | |
| XM_011515871.2:c.1882G>A | XP_011514173.1:p.Ala628Thr | |
| XM_011515872.2:c.1870G>A | XP_011514174.1:p.Ala624Thr | |
| XM_011515873.2:c.1867G>A | XP_011514175.1:p.Ala623Thr | |
| XM_011515875.2:c.1843G>A | XP_011514177.1:p.Ala615Thr | |
| XM_011515876.2:c.1924G>A | XP_011514178.1:p.Ala642Thr | |
| XM_011515877.2:c.1813G>A | XP_011514179.1:p.Ala605Thr | |
| XM_017011813.1:c.1837G>A | XP_016867302.1:p.Ala613Thr | |
| XM_017011814.2:c.1825G>A | XP_016867303.1:p.Ala609Thr | |
| NM_000501.4:c.1909G>A MANE Select | NP_000492.2:p.Ala637Thr | |
| NM_001081752.3:c.1822G>A | NP_001075221.1:p.Ala608Thr | |
| NM_001081753.3:c.1867G>A | NP_001075222.1:p.Ala623Thr | |
| NM_001081754.3:c.1924G>A | NP_001075223.1:p.Ala642Thr | |
| NM_001081755.3:c.1852G>A | NP_001075224.1:p.Ala618Thr | |
| NM_001278912.2:c.1909G>A | NP_001265841.1:p.Ala637Thr | |
| NM_001278913.2:c.1666G>A | NP_001265842.1:p.Ala556Thr | |
| NM_001278914.2:c.1837G>A | NP_001265843.1:p.Ala613Thr | |
| NM_001278915.2:c.1927G>A | NP_001265844.1:p.Ala643Thr | |
| NM_001278916.2:c.1765G>A | NP_001265845.1:p.Ala589Thr | |
| NM_001278917.2:c.1879G>A | NP_001265846.1:p.Ala627Thr | |
| NM_001278918.2:c.1642G>A | NP_001265847.1:p.Ala548Thr | |
| NM_001278939.2:c.2095G>A | NP_001265868.1:p.Ala699Thr |