Linked Data
ClinVar Variation Id:
6672
dbSNP Id:
rs745891180
ExAC:
2:71891573 G / A
gnomAD v2:
2-71891573-G-A
gnomAD v4:
2-71664443-G-A
PubMed:
PMID:10766988
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71664443G>A , CM000664.2:g.71664443G>A | GRCh38 |
| NC_000002.11:g.71891573G>A , CM000664.1:g.71891573G>A | GRCh37 |
| NC_000002.10:g.71745081G>A | NCBI36 |
| NG_008694.1:g.215821G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698057.1:c.2588+5G>A | ENSP00000513536.1:n.2588+5G>A | |
| ENST00000698058.1:c.1805+5G>A | ENSP00000513537.1:n.1805+5G>A | |
| ENST00000698059.1:c.1913+5G>A | ENSP00000513538.1:n.1913+5G>A | |
| ENST00000258104.8:c.5057+5G>A MANE Plus Clinical | ENSP00000258104.3:n.5057+5G>A | |
| ENST00000410020.8:c.5174+5G>A MANE Select | ENSP00000386881.3:n.5174+5G>A | |
| ENST00000258104.7:c.5057+5G>A | ENSP00000258104.3:n.5057+5G>A | |
| ENST00000394120.6:c.5060+5G>A | ENSP00000377678.2:n.5060+5G>A | |
| ENST00000409366.5:c.5123+5G>A | ENSP00000386512.1:n.5123+5G>A | |
| ENST00000409582.7:c.5171+5G>A | ENSP00000386547.3:n.5171+5G>A | |
| ENST00000409651.5:c.5153+5G>A | ENSP00000386683.1:n.5153+5G>A | |
| ENST00000409744.5:c.5081+5G>A | ENSP00000386285.1:n.5081+5G>A | |
| ENST00000409762.5:c.5108+5G>A | ENSP00000387137.1:n.5108+5G>A | |
| ENST00000410020.7:c.5174+5G>A | ENSP00000386881.3:n.5174+5G>A | |
| ENST00000410041.1:c.5111+5G>A | ENSP00000386617.1:n.5111+5G>A | |
| ENST00000413539.6:c.5150+5G>A | ENSP00000407046.2:n.5150+5G>A | |
| ENST00000429174.6:c.5120+5G>A | ENSP00000398305.2:n.5120+5G>A | |
| ENST00000479049.6:n.1942+5G>A | ||
| NM_001130455.1:c.5060+5G>A | NP_001123927.1:n.5060+5G>A | |
| NM_001130976.1:c.5015+5G>A | NP_001124448.1:n.5015+5G>A | |
| NM_001130977.1:c.5078+5G>A | NP_001124449.1:n.5078+5G>A | |
| NM_001130978.1:c.5120+5G>A | NP_001124450.1:n.5120+5G>A | |
| NM_001130979.1:c.5150+5G>A | NP_001124451.1:n.5150+5G>A | |
| NM_001130980.1:c.5108+5G>A | NP_001124452.1:n.5108+5G>A | |
| NM_001130981.1:c.5171+5G>A | NP_001124453.1:n.5171+5G>A | |
| NM_001130982.1:c.5153+5G>A | NP_001124454.1:n.5153+5G>A | |
| NM_001130983.1:c.5123+5G>A | NP_001124455.1:n.5123+5G>A | |
| NM_001130984.1:c.5081+5G>A | NP_001124456.1:n.5081+5G>A | |
| NM_001130985.1:c.5111+5G>A | NP_001124457.1:n.5111+5G>A | |
| NM_001130986.1:c.5018+5G>A | NP_001124458.1:n.5018+5G>A | |
| NM_001130987.1:c.5174+5G>A | NP_001124459.1:n.5174+5G>A | |
| NM_003494.3:c.5057+5G>A | NP_003485.1:n.5057+5G>A | |
| XM_005264584.3:c.5216+5G>A | XP_005264641.1:n.5216+5G>A | |
| XM_005264585.3:c.5213+5G>A | XP_005264642.1:n.5213+5G>A | |
| XM_005264584.4:c.5216+5G>A | XP_005264641.1:n.5216+5G>A | |
| XM_005264585.5:c.5213+5G>A | XP_005264642.1:n.5213+5G>A | |
| XR_001738969.1:n.5379G>A | ||
| NM_001130987.2:c.5174+5G>A MANE Select | NP_001124459.1:n.5174+5G>A | |
| NM_001130455.2:c.5060+5G>A | NP_001123927.1:n.5060+5G>A | |
| NM_001130976.2:c.5015+5G>A | NP_001124448.1:n.5015+5G>A | |
| NM_001130977.2:c.5078+5G>A | NP_001124449.1:n.5078+5G>A | |
| NM_001130978.2:c.5120+5G>A | NP_001124450.1:n.5120+5G>A | |
| NM_001130979.2:c.5150+5G>A | NP_001124451.1:n.5150+5G>A | |
| NM_001130980.2:c.5108+5G>A | NP_001124452.1:n.5108+5G>A | |
| NM_001130981.2:c.5171+5G>A | NP_001124453.1:n.5171+5G>A | |
| NM_001130982.2:c.5153+5G>A | NP_001124454.1:n.5153+5G>A | |
| NM_001130983.2:c.5123+5G>A | NP_001124455.1:n.5123+5G>A | |
| NM_001130984.2:c.5081+5G>A | NP_001124456.1:n.5081+5G>A | |
| NM_001130985.2:c.5111+5G>A | NP_001124457.1:n.5111+5G>A | |
| NM_001130986.2:c.5018+5G>A | NP_001124458.1:n.5018+5G>A | |
| NM_003494.4:c.5057+5G>A MANE Plus Clinical | NP_003485.1:n.5057+5G>A |